Allele Registry

Canonical Allele Identifier: PA645449098

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239743

RCV000584839

RCV001519462

ClinVar Variation:

253282

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Arg530Trp	CA6571282 NM_014191.4:c.1588C>T