Canonical Allele Identifier: PA2826130743
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2039724
ClinVar RCV Id: RCV002900112 RCV004066001
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Arg1800His
CA384887139
NM_001177984.2:c.5399G>A