Allele Registry

Canonical Allele Identifier: PA318281

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189279

ClinVar Variation:

207121

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Phe1480Leu	CA318280 NM_014191.4:c.4438T>C CA384909043 NM_014191.4:c.4440C>A CA384909044 NM_014191.4:c.4440C>G