Allele Registry

Canonical Allele Identifier: PA091985

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV000013998

RCV000085196

RCV000665910

RCV000986331

RCV001278137

RCV002265555

RCV003460469

ClinVar Variation:

13119

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Ala132Thr	CA226547 NM_000329.3:c.394G>A