Canonical Allele Identifier: PA2828360194
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 452224
ClinVar RCV Id: RCV000521808

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Gly70Arg
CA385228318
NM_001369788.1:c.208G>A
CA385228320
NM_001369788.1:c.208G>C