Allele
Trial Use
May change in future releases. See Maturity Model.
Computational Definition
The state of a molecule at a Location.
GA4GH Digest
Prefix |
Inherent |
|---|---|
VA |
[‘location’, ‘state’, ‘type’] |
Information Model
Some Allele attributes are inherited from Variation.
Field |
Flags |
Type |
Limits |
Description |
|---|---|---|---|---|
id |
string |
0..1 |
The ‘logical’ identifier of the Entity in the system of record, e.g. a UUID. This ‘id’ is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another. |
|
type |
string |
1..1 |
MUST be “Allele” |
|
name |
string |
0..1 |
A primary name for the entity. |
|
description |
string |
0..1 |
A free-text description of the Entity. |
|
aliases |
⋮ | string |
0..m |
Alternative name(s) for the Entity. |
extensions |
⋮ | 0..m |
A list of extensions to the Entity, that allow for capture of information not directly supported by elements defined in the model. |
|
digest |
string |
0..1 |
A sha512t24u digest created using the VRS Computed Identifier algorithm. |
|
expressions |
⋮ | 0..m |
||
location |
1..1 |
The location of the Allele |
||
state |
1..1 |
An expression of the sequence state |
Inherits: MolecularVariation
Used in: Cis Phased Block, Cohort Allele Frequency Study Result, Computational Variant Functional Impact Analysis Result, Defining Allele Constraint, Derivative Molecule, Tumor Variant Frequency Study Result, Variant Molecular Consequence Proposition