Allele Registry

Canonical Allele Identifier: PA226498

Gene: RPE65 HGNC NCBI

ClinVar Allele:

104724

ClinVar RCV:

RCV000085159

RCV001041992

RCV001089894

RCV002509207

ClinVar Variation:

98834

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Leu408Pro	CA226497 NM_000329.3:c.1223T>C