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
ENSP00000490780.1:p.Asn1000Lys	CA349060305 ENST00000637988.1:c.3000T>G CA349060306 ENST00000637988.1:c.3000T>A