Allele Registry

Canonical Allele Identifier: PA2827292225

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000172910

RCV000517164

RCV001380064

RCV002516572

RCV003320591

RCV003992212

ClinVar Variation:

192318

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Gly1451Ser	CA278916 NM_001330260.2:c.4351G>A