Canonical Allele Identifier: PA891855379
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 573313
ClinVar RCV Id: RCV000694955

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Met1869Ile
CA384887991
NM_014191.4:c.5607G>A
CA384887993
NM_014191.4:c.5607G>C
CA384887996
NM_014191.4:c.5607G>T