Allele Registry

Canonical Allele Identifier: PA2828361223

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000438505

RCV002298587

ClinVar Variation:

383869

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Lys1430Gln	CA16606653 NM_001369788.1:c.4288A>C