Allele Registry

Canonical Allele Identifier: PA318293

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189285

ClinVar Variation:

207127

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Ala1650Val	CA318292 NM_014191.4:c.4949C>T