Canonical Allele Identifier: PA2828361526
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 579919
ClinVar RCV Id: RCV000703318 RCV000763861 RCV002343547
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Ile1786Val
CA6571922
NM_001369788.1:c.5356A>G