Allele Registry

Canonical Allele Identifier: PA318267

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000725891

RCV001034264

RCV002453700

ClinVar Variation:

207114

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Ala1214Thr	CA318266 NM_014191.4:c.3640G>A