Allele Registry

Canonical Allele Identifier: PA2828361238

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189279

ClinVar Variation:

207121

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Phe1439Leu	CA318280 NM_001369788.1:c.4315T>C CA384909043 NM_001369788.1:c.4317C>A CA384909044 NM_001369788.1:c.4317C>G