Canonical Allele Identifier: PA2828361604
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2975016
ClinVar RCV Id: RCV003838638

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1850Cys
CA6571939
NM_001369788.1:c.5548C>T