Canonical Allele Identifier: PA2828361538
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2849964
ClinVar RCV Id: RCV003754712
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.His1802Pro
CA384887206
NM_001369788.1:c.5405A>C