Canonical Allele Identifier: PA2828361504
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1518768
ClinVar RCV Id: RCV002024111

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Phe1754Leu
CA384885728
NM_001369788.1:c.5260T>C
CA384885746
NM_001369788.1:c.5262C>A
CA384885756
NM_001369788.1:c.5262C>G