Allele Registry

Canonical Allele Identifier: PA2828361339

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239762

RCV001528565

RCV001854935

ClinVar Variation:

253290

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Ser1555Cys	CA10586296 NM_001369788.1:c.4664C>G