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: PA2826857391

Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429697

ClinVar RCV Id: RCV000493655 RCV000762937 RCV002470881 RCV003470613

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287913.1:p.Cys753Tyr	CA7438634 NM_001300984.2:c.2258G>A