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Canonical Allele Identifier: Get Identifier
Gene: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341438.1:p.[Val515_Glu537delinsSer;Gln540_Glu544del]
CA891843647
NM_001354509.2:c.1540del