Allele Registry

Canonical Allele Identifier: PA2827753693

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000493229

RCV002524036

ClinVar Variation:

429801

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Glu1455Lys	CA349049462 NM_001353948.2:c.4363G>A