Allele Registry

Canonical Allele Identifier: PA658663693

Gene: RPE65 HGNC NCBI

ClinVar Allele:

448370

ClinVar RCV:

RCV000553292

RCV002287424

ClinVar Variation:

467826

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Phe72Ser	CA340748948 NM_000329.3:c.215T>C