ClinvarCanonicalAllele¶
Draft
This data class is at a draft maturity level and may change significantly in future releases.
A ClinVar canonical allele — the most common variant type. ClinVar identifies each variation by mapping submitted attributes to a GRCh38 genomic allele, which becomes the defining allele constraint. Carries ClinVar-specific extensions (HGVS list, gene list, cytogenetic location, variation type, etc.) alongside the Cat-VRS CanonicalAllele structure.
JSON Schema: ClinvarCanonicalAllele
Some ClinvarCanonicalAllele attributes are inherited from CanonicalAllele, ClinvarCanonicalAlleleProperties, ClinvarCategoricalVariantProperties.
Information Model¶
| Field | 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 |
0..1 | MUST be "CategoricalVariant" |
name |
string |
0..1 | A primary name for the entity. |
description |
string |
0..1 | A free-text description of the Entity. |
aliases |
string[] (unordered) |
0..m | Alternative name(s) for the Entity. |
extensions |
ExtensionClinvarHgvsList | ExtensionClinvarGeneList | ExtensionCategoricalVariationType | ExtensionDefiningVrsVariationType | ExtensionClinvarVariationType | ExtensionClinvarSubclassType | ExtensionClinvarCytogeneticLocation | ExtensionVrsPreProcessingIssue | ExtensionsVrsProcessingException[] (unordered) |
0..m | A list of extensions to the entity. Extensions are not expected to be natively understood, but may be used for pre-negotiated exchange of message attributes between systems. |
members |
iriReference | ClinvarAllele[] (unordered) |
0..m | A non-exhaustive list of VRS variation contexts that satisfy the constraints of this categorical variant. |
constraints |
Constraint[] (unordered) |
0..m | |
mappings |
ConceptMapping[] (unordered) |
0..m | A list of mappings to concepts in terminologies or code systems. Each mapping should include a coding and a relation. |
definingContext |
iriReference | ClinvarAllele |
0..1 |