Allele Registry

Canonical Allele Identifier: PA092366

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV000085226

RCV002226457

RCV004527320

ClinVar Variation:

98895

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Val287Phe	CA226585 NM_000329.3:c.859G>T