Allele Registry

Canonical Allele Identifier: PA2825125242

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV002466805

ClinVar Variation:

1803135

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Pro363Ser	CA902299 NM_000329.3:c.1087C>T