Canonical Allele Identifier: PA2828361385
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1098394
ClinVar RCV Id: RCV001420313
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Ile1596Met
CA384880496
NM_001369788.1:c.4788T>G