Allele Registry

Canonical Allele Identifier: PA226286

Gene: PRPH2 HGNC NCBI

ClinVar RCV:

RCV000014050

RCV000085007

RCV001003142

RCV001063368

RCV001075781

RCV001250376

ClinVar Variation:

13164

HGVS (amino-acid)	Matching Registered Transcripts
NP_000313.2:p.Pro216Leu	CA226285 NM_000322.5:c.647C>T