Allele Registry

Canonical Allele Identifier: PA092312

Gene: RPE65 HGNC NCBI

ClinVar Allele:

104779

ClinVar RCV:

RCV000085220

RCV000678618

RCV001207227

RCV001831895

RCV003764797

ClinVar Variation:

98889

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Tyr239Asp	CA226579 NM_000329.3:c.715T>G