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.[Pro493_Gln497delinsGlnGluGlnAsp;Pro499_Tyr501delinsSer;Leu505_Leu510del;Glu512_Ile522del]
CA2646149703
NM_000329.3:c.1478del