Allele Registry

Canonical Allele Identifier: PA2827758762

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188905

RCV001317116

ClinVar Variation:

206794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Ala978Val	CA317339 NM_001353949.2:c.2933C>T