Canonical Allele Identifier: PA2828361542
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1318732
ClinVar RCV Id: RCV001768356
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Phe1808Leu
CA384887389
NM_001369788.1:c.5422T>C
CA384887400
NM_001369788.1:c.5424T>A
CA384887401
NM_001369788.1:c.5424T>G