Allele Registry

Canonical Allele Identifier: PA317341

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201537

ClinVar RCV:

RCV000188905

RCV001317116

ClinVar Variation:

206794

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ala978Val	CA317339 NM_006920.6:c.2933C>T