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
ENSP00000486706.1:p.[Arg782_Phe784delinsLeuPro;Gly786_Phe787delinsAlaAla;Ile789Ala;Gln791Pro;Lys793_Ala798delinsProArgArgThrTrpMet;Asn800del;Cys802_Tyr803delinsThr;Val806_Ala807delinsThrArg;Cys809_Ala810delinsTrpArgLeuValPro]
CA2697547447
ENST00000626839.2:c.2345del