Canonical Allele Identifier: PA2827291785
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 406258
ClinVar RCV Id: RCV000476305

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Arg1003His
CA6571535
NM_001330260.2:c.3008G>A