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: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502703.1:p.[Ala474_Ile481delinsGlyThrCysPro;Met483_Gln492delinsArgAspAspArgTyrGlyLysSerCysArg;Tyr494_Val495delinsGlu;Phe497_Gln501delinsAlaValValCys;Val503Ile]
CA333322
ENST00000675177.1:c.1420dup