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.[Gly494_Gln497delinsArgSerArgThr;Pro499del;Tyr501Cys;Leu503_Lys508delinsSerPro;Leu510del;Val513_Ile522delinsCysGlnGlyLeuLys]
CA1173557456
NM_000329.3:c.1478dup