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_001340889.1:p.Asn1750Lys	CA349068119 NM_001353960.2:c.5250C>G CA349068121 NM_001353960.2:c.5250C>A