Allele Registry

Canonical Allele Identifier: PA916036872

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059426

RCV000188974

RCV000636318

ClinVar Variation:

68552

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Cys774Arg	CA284979 NM_001353961.2:c.2320T>C