Allele Registry

Canonical Allele Identifier: PA2827766377

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188940

RCV001222481

ClinVar Variation:

206818

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Ala1328Asp	CA317429 NM_001353950.2:c.3983C>A