This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000359244.2:p.[Ala193_Arg214delinsCysHisIleCysAlaProGluProAlaLeuProAlaAspSerAlaAspAspProHisGlyProAla;Gly216_Leu221delinsArgHisLeuGluAlaAla]
CA2842951553
ENST00000370224.5:c.576dup