Canonical Allele Identifier: PA2828361637
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 976359
ClinVar RCV Id: RCV001253634 RCV001879873
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.His1890Gln
CA384889475
NM_001369788.1:c.5670C>A
CA384889477
NM_001369788.1:c.5670C>G