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_001340887.1:p.Thr1253Ser	CA349054030 NM_001353958.2:c.3758C>G CA349054037 NM_001353958.2:c.3757A>T