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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000345523.5:p.[Leu220_Leu221delinsAlaAla;Ser223_Phe240delinsLeuCysGlyLeuCysProGlnGlnGlyAlaGlyHisCysLeuValHisArgLeuPro;Cys242_Phe248delinsSerHisProGlyLeuValPro]
CA2838969325
ENST00000344425.8:c.656dup