Allele Registry

Canonical Allele Identifier: PA2827291189

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239743

RCV000584839

RCV001519462

ClinVar Variation:

253282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Arg530Trp	CA6571282 NM_001330260.2:c.1588C>T