Allele Registry

Canonical Allele Identifier: PA2828361639

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000189292

RCV000529426

RCV002354533

ClinVar Variation:

207134

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Arg1891Pro	CA318305 NM_001369788.1:c.5672G>C