Allele Registry

Canonical Allele Identifier: PA645403232

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000430819

RCV001043886

ClinVar Variation:

282982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Glu686Ala	CA1943194 NM_001165963.4:c.2057A>C