Allele Registry

Canonical Allele Identifier: PA2828722790

Gene: RPGRIP1 HGNC NCBI

ClinVar Allele:

268032

ClinVar RCV:

RCV000325954

RCV000763912

RCV001111169

RCV001800646

RCV002282101

ClinVar Variation:

283795

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364452.1:p.Pro227Ser	CA7089060 NM_001377523.1:c.679C>T