Allele Registry

Canonical Allele Identifier: PA1139676418

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV001199757

RCV003769401

RCV004527406

ClinVar Variation:

813222

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Gly484Val	CA902151 NM_000329.3:c.1451G>T