Allele Registry

Canonical Allele Identifier: PA2827776034

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489157

RCV000636267

ClinVar Variation:

426565

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Arg534Cys	CA1943286 NM_001353954.2:c.1600C>T