Allele Registry

Canonical Allele Identifier: PA2828360481

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000434079

RCV000636400

ClinVar Variation:

381058

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Lys482Arg	CA6571262 NM_001369788.1:c.1445A>G