Allele Registry

Canonical Allele Identifier: PA239470

Gene: RPGR HGNC NCBI

ClinVar RCV:

RCV000173995

RCV001353107

RCV001360742

ClinVar Variation:

193808

HGVS (amino-acid)	Matching Registered Transcripts
NP_000319.1:p.Cys450Arg	CA239469 NM_000328.3:c.1348T>C