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)	Transcript change
ENSP00000364554.3:p.Thr199Arg	ENST00000375405.7:c.[591del;593T>A;595A>C... ENST00000375405.7:c.[591del;593T>A;595A>T... ENST00000375405.7:c.[591del;593T>A;597A>G... ENST00000375405.7:c.[594del;597A>G;600dup... ENST00000375405.7:c.596C>G