Allele Registry

Canonical Allele Identifier: PA916019075

Gene: OCA2 HGNC NCBI

ClinVar RCV:

RCV000180125

RCV000486337

RCV003398903

RCV003468873

ClinVar Variation:

198707

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287913.1:p.Asn273_Trp274delinsLysVal	CA275423 NM_001300984.2:c.819_822delinsGGTC