ClinVar archives reports of relationships among medically important variants and phenotypes. It records human variation, interpretations of the relationship specific variations to human health, and supporting evidence for each interpretation. Each ClinVar record (RCV identifier) represents an aggregated view of interpretations of the same variation and condition from one or more submitters. Submissions for individual variation/phenotype combinations (SCV identifier) are also collected and made available separately. This collection references the Variant identifier.

Prefix
clinvar
Alternative Prefixes
clinvar.variation clinvar.variant
Keywords
biomedical science clinical studies genomics preclinical studies
Links
Homepage
Contact
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in ClinVar Variation should match this regular expression:
^\d+$

Example Local Unique Identifier
12345   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ClinVar Variation should match this regular expression:
^clinvar:\d+$

Example CURIE
clinvar:12345
Publications
2013 ClinVar: public archive of relationships among sequence variation and human phenotype
Ontology

A summary of the relations in the Bioregistry schema can be found here.

Has Parts (bfo:0000051 )
clinvar.record
In Collection
FHIR External Terminologies
Metaregistry ClinVar Variation

The metaregistry provides mappings between the Bioregistry and other registries. There are 11 mappings to external registries for this resource with 7 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext ClinVarVariant
Biolink Biolink Model Registry logo biolink CLINVAR
Cellosaurus Cellosaurus Registry logo cellosaurus ClinVar
FAIRSharing FAIRSharing logo fairsharing FAIRsharing.wx5r6f
HL7 HL7 External Code Systems logo hl7 2.16.840.1.113883.6.319
Integbio Integbio logo integbio nbdc01514
Identifiers.org Identifiers.org logo miriam clinvar
N2T Name-to-Thing logo n2t clinvar
re3data Registry of Research Data Repositories logo re3data r3d100013331
TogoID togoid Clinvar
Wikidata Wikidata Property logo wikidata P1929
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE clinvar:12345 is used to demonstrate the provides available for this resource. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
ClinVar Variation clinvar https://www.ncbi.nlm.nih.gov/clinvar/variation/12345
Bioregistry bioregistry https://bioregistry.io/clinvar:12345
Identifiers.org miriam https://identifiers.org/clinvar:12345
Name-to-Thing n2t https://n2t.net/clinvar:12345