Allele Registry

Canonical Allele Identifier: PA2826130273

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000536288

RCV002282211

RCV002456092

RCV003448318

ClinVar Variation:

461339

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Arg1188Gln	CA384896499 NM_001177984.2:c.3563G>A