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
NP_001159435.1:p.[Glu428_Gln439delinsAspArgIleArgProProTrpLys;Glu441_Phe444del;Gln446_Leu451delinsAsnArg;Lys453_Ala458delinsArgProAsnPheSerArg]
CA16532730
NM_001165963.4:c.1284del