Canonical Allele Identifier: PA2828361619
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2961616
ClinVar RCV Id: RCV003822262

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Gly1867Arg
CA6571945
NM_001369788.1:c.5599G>A
CA384888909
NM_001369788.1:c.5599G>C