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_001340886.1:p.Val998Leu
CA349060106
NM_001353957.2:c.2992G>C
CA349060109
NM_001353957.2:c.2992G>T