Allele Registry

Canonical Allele Identifier: PA916036350

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000430819

RCV001043886

ClinVar Variation:

282982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Glu686Ala	CA1943194 NM_001353948.2:c.2057A>C