Allele Registry

Canonical Allele Identifier: PA1139676348

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV001054822

RCV001250697

RCV001827346

RCV004527410

ClinVar Variation:

850613

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Ala434Glu	CA340742486 NM_000329.3:c.1301C>A