Canonical Allele Identifier: PA2828360517
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 588891
ClinVar RCV Id: RCV002315385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg526Lys
CA6571281
NM_001369788.1:c.1577G>A