Allele Registry

Canonical Allele Identifier: PA658663702

Gene: RPE65 HGNC NCBI

ClinVar Allele:

448230

ClinVar RCV:

RCV000542372

RCV000754974

RCV003470756

RCV003767007

ClinVar Variation:

467827

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Gly140Glu	CA340747862 NM_000329.3:c.419G>A