Allele Registry

Canonical Allele Identifier: PA318277

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189277

RCV000416962

RCV000462091

RCV000500598

RCV000627041

RCV002037567

RCV003992219

ClinVar Variation:

207119

1345807

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Gly1475Arg	CA318276 NM_014191.4:c.4423G>A CA384909007 NM_014191.4:c.4423G>C