Allele Registry

Canonical Allele Identifier: PA645379814

Gene: OCA2 HGNC NCBI

ClinVar RCV:

RCV000413670

RCV001797713

RCV002480264

RCV003418094

RCV003463816

ClinVar Variation:

372713

HGVS (amino-acid)	Matching Registered Transcripts
NP_000266.2:p.Leu207_Leu212del	CA7439405 NM_000275.3:c.619_636del