Allele Registry

Canonical Allele Identifier: PA2828361172

Gene: SCN8A HGNC NCBI

ClinVar Allele:

514022

ClinVar RCV:

RCV000626917

RCV000701379

RCV001330491

ClinVar Variation:

523505

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Phe1371Ser	CA384907172 NM_001369788.1:c.4112T>C