Allele Registry

Canonical Allele Identifier: PA645404479

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000493229

RCV002524036

ClinVar Variation:

429801

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Glu1455Lys	CA349049462 NM_001165963.4:c.4363G>A