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_001340883.1:p.Thr1248Ser	CA349054390 NM_001353954.2:c.3743C>G CA349054395 NM_001353954.2:c.3742A>T