Allele Registry

Canonical Allele Identifier: PA2827762316

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188919

RCV001241778

RCV002225093

RCV002485282

ClinVar Variation:

206802

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Arg28Cys	CA317371 NM_001353950.2:c.82C>T