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
ENSP00000492917.1:p.Asp54Glu	CA349242979 ENST00000641575.1:c.162C>G CA349242981 ENST00000641575.1:c.162C>A