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Canonical Allele Identifier: Get Identifier
Gene: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.[Ala536_Ile543delinsGlyThrCysPro;Met545_Gln554delinsArgAspAspArgTyrGlyLysSerCysArg;Tyr556_Val557delinsGlu;Phe559_Gln563delinsAlaValValCys;Val565Ile]
CA333322
NM_000462.5:c.1606dup