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
XP_006723850.1:p.[Val463_Phe486delinsGluAlaValThrGlnArgArgProGluProArgGlyGlnProGlnGlnGlyAlaGlnGluLeuGluLeuArg;Asp488_Arg493delinsProGlnProGlyThr]
CA10583878
XM_006723787.1:c.1388_1389del