Allele Registry

Canonical Allele Identifier: PA317342

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201537

ClinVar RCV:

RCV000188905

RCV001317116

ClinVar Variation:

206794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Ala989Val	CA317339 NM_001165963.4:c.2966C>T