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
XP_011509905.1:p.[Gly1309_Lys1312delinsGluPro;Leu1314_Thr1316delinsAsn;Arg1318_Leu1326del;Arg1328_Glu1330del;Met1332_Ala1338delinsHis]
CA2586965076
XM_011511603.1:c.3926del