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Canonical Allele Identifier: Get Identifier
Gene: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497572.2:p.[Ala533_Ile540delinsGlyThrCysPro;Met542_Gln551delinsArgAspAspArgTyrGlyLysSerCysArg;Tyr553_Val554delinsGlu;Phe556_Gln560delinsAlaValValCys;Val562Ile]
CA333322
ENST00000648336.2:c.1597dup