Allele Registry

Canonical Allele Identifier: PA092085

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV000085203

RCV000678617

RCV000778252

RCV001245153

RCV001250708

RCV001831894

RCV004527316

ClinVar Variation:

98873

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Asp167Tyr	CA226557 NM_000329.3:c.499G>T