Allele Registry

Canonical Allele Identifier: PA645449475

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239762

RCV001528565

RCV001854935

ClinVar Variation:

253290

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Ser1596Cys	CA10586296 NM_014191.4:c.4787C>G