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: PA2826857091

Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 955

ClinVar RCV Id: RCV000001006 RCV000310636 RCV000477815 RCV000623104 RCV002251850 RCV003415611 RCV003466772

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287913.1:p.Val419Ile	CA251634 NM_001300984.2:c.1255G>A