Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2580111175

Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1935789

ClinVar RCV Id: RCV002636083

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000266.2:p.Ala687Thr	CA391360952 NM_000275.3:c.2059G>A