Allele Registry

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

HGVS (amino-acid)	Transcript change
NP_001159435.1:p.Tyr1781Ter	NM_001165963.4:c.5343del NM_001165963.4:c.5343C>A NM_001165963.4:c.5343C>G