Allele Registry

Canonical Allele Identifier: PA2825125202

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV004527503

ClinVar Variation:

3233353

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Gly333Arg	CA340744559 NM_000329.3:c.997G>A CA340744560 NM_000329.3:c.997G>C