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)	Matching Registered Transcripts
NP_001340881.1:p.Asp994Glu	CA349060386 NM_001353952.2:c.2982T>G CA349060388 NM_001353952.2:c.2982T>A