Canonical Allele Identifier: PA2826130865
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207136
ClinVar RCV Id: RCV000636407 RCV000726306 RCV001197747 RCV002317158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Arg1919Gln
CA318309
NM_001177984.2:c.5756G>A