Allele Registry

Canonical Allele Identifier: PA645510270

Gene: RPGRIP1 HGNC NCBI

ClinVar RCV:

RCV000504829

RCV001215982

RCV002230986

ClinVar Variation:

438161

HGVS (amino-acid)	Matching Registered Transcripts
NP_065099.3:p.Glu800Lys	CA7089253 NM_020366.4:c.2398G>A