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
ENSP00000486040.1:p.[Pro648_Phe655delinsArgGlnArgProArgProThrLeu;Ala657Pro;Glu659_Asp677delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA645608744
ENST00000625514.2:c.1943del