Allele Registry

Canonical Allele Identifier: PA2826130126

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000118280

RCV000226089

RCV000992912

RCV001089736

RCV002312498

ClinVar Variation:

130244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Arg1026Cys	CA289034 NM_001177984.2:c.3076C>T