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_001340877.1:p.[Asp1293del;Ser1295_Val1297delinsPheHisTrp;Leu1299_Arg1322delinsVal]
CA2586965082
NM_001353948.2:c.3878del