Allele Registry

Canonical Allele Identifier: PA915960319

Gene: PRPH2 HGNC NCBI

ClinVar RCV:

RCV001003146

RCV001379736

RCV001530227

RCV002250712

ClinVar Variation:

812387

HGVS (amino-acid)	Matching Registered Transcripts
NP_000313.2:p.Asp173Ala	CA364137383 NM_000322.5:c.518A>C