Allele Registry

Canonical Allele Identifier: PA226305

Gene: PRPH2 HGNC NCBI

ClinVar RCV:

RCV000014058

RCV000085017

RCV000085018

RCV001003139

RCV003887870

ClinVar Variation:

13172

98705

HGVS (amino-acid)	Matching Registered Transcripts
NP_000313.2:p.Asn244Lys	CA226304 NM_000322.5:c.732C>A CA226306 NM_000322.5:c.732C>G