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: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000492945.1:p.[Ser1232_Ala1234delinsMetVal;Ala1236_Asp1239delinsTrpHisLeuLys;Asp1243_Val1258delinsLeuIleSerGluArgArgLeuArgArgCysTrpAsnMetLeuThrArg;Thr1260_Tyr1261delinsSerLeuThr]
CA2661757826
ENST00000641603.1:c.3695del