Allele Registry

Canonical Allele Identifier: PA1139675673

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV001257819

ClinVar Variation:

978980

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Gly104Arg	CA340748268 NM_000329.3:c.310G>C