Allele Registry

Canonical Allele Identifier: PA318306

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189292

RCV000529426

RCV002354533

ClinVar Variation:

207134

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Arg1932Pro	CA318305 NM_014191.4:c.5795G>C