Allele Registry

Canonical Allele Identifier: PA645420560

Gene: RPE65 HGNC NCBI

ClinVar Allele:

282966

ClinVar RCV:

RCV000265981

RCV000321010

RCV003888702

ClinVar Variation:

298023

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Gln228Pro	CA10611418 NM_000329.3:c.683A>C