Canonical Allele Identifier: PA2827292799
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 573313
ClinVar RCV Id: RCV000694955

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Met1869Ile
CA384887991
NM_001330260.2:c.5607G>A
CA384887993
NM_001330260.2:c.5607G>C
CA384887996
NM_001330260.2:c.5607G>T