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
ENSP00000353668.3:p.[Pro748Thr;Glu750Arg;Asn752_Asp757delinsThrCysGlyThrAla;Ser759_Ile760delinsArgPro;Ile762del;Val765_Arg772delinsArgProTrpThrThrArgSerTrp;Phe774delinsValPro;Gly776_Phe777delinsAlaAlaSer]
CA915952957
ENST00000360480.7:c.2242_2243delinsA