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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000487142.1:p.[Thr217_Leu221delinsHisLeuGluAlaAla;Ser223_Phe240delinsLeuCysGlyLeuCysProGlnGlnGlyAlaGlyHisCysLeuValHisArgLeuPro;Cys242_Leu245delinsSerHisProGly]
CA2842951552
ENST00000629241.2:c.647dup