Allele Registry

Canonical Allele Identifier: PA2827763367

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180898

RCV002516538

ClinVar Variation:

189945

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Cys345Arg	CA303376 NM_001353950.2:c.1033T>C