This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: RPE65 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Cys448Ser
CA340742298
NM_000329.3:c.1343G>C
CA340742307
NM_000329.3:c.1342T>A