Allele Registry

Canonical Allele Identifier: PA2826013381

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000493229

RCV002524036

ClinVar Variation:

429801

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Glu1427Lys	CA349049462 NM_001165964.3:c.4279G>A