Canonical Allele Identifier: PA2828361570
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 573313
ClinVar RCV Id: RCV000694955

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Met1828Ile
CA384887991
NM_001369788.1:c.5484G>A
CA384887993
NM_001369788.1:c.5484G>C
CA384887996
NM_001369788.1:c.5484G>T