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Canonical Allele Identifier: Get Identifier
Gene: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341441.1:p.[Ala513_Ile520delinsGlyThrCysPro;Met522_Gln531delinsArgAspAspArgTyrGlyLysSerCysArg;Tyr533_Val534delinsGlu;Phe536_Gln540delinsAlaValValCys;Val542Ile]
CA333322
NM_001354512.2:c.1537dup