Allele Registry

Canonical Allele Identifier: PA2826259306

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188905

RCV001317116

ClinVar Variation:

206794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Ala989Val	CA317339 NM_001202435.3:c.2966C>T