Allele Registry

Canonical Allele Identifier: PA317318

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188898

RCV000559138

RCV001253284

ClinVar Variation:

206788

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Val947Met	CA317315 NM_001165963.4:c.2839G>A