Allele Registry

Canonical Allele Identifier: PA2828360506

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000636433

RCV001526836

RCV001591417

ClinVar Variation:

530531

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Glu507Gln	CA6571272 NM_001369788.1:c.1519G>C