Allele Registry

Canonical Allele Identifier: PA1139676392

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV001250695

RCV001339011

RCV002265965

ClinVar Variation:

973961

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Glu481del	CA523749345 NM_000329.3:c.1443_1445del