Allele Registry

Canonical Allele Identifier: PA645418378

Gene: RPGRIP1 HGNC NCBI

ClinVar Allele:

268032

ClinVar RCV:

RCV000325954

RCV000763912

RCV001111169

RCV001800646

RCV002282101

ClinVar Variation:

283795

HGVS (amino-acid)	Matching Registered Transcripts
NP_065099.3:p.Pro585Ser	CA7089060 NM_020366.4:c.1753C>T