Allele Registry

Canonical Allele Identifier: PA2826258858

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000430819

RCV001043886

ClinVar Variation:

282982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Glu686Ala	CA1943194 NM_001202435.3:c.2057A>C