Allele Registry

Canonical Allele Identifier: PA2826130188

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000625852

RCV000994922

RCV001868159

RCV003231543

ClinVar Variation:

522699

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Asn1089Lys	CA6571568 NM_001177984.2:c.3267C>A CA384893294 NM_001177984.2:c.3267C>G