Canonical Allele Identifier: PA2828361474
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 461346
ClinVar RCV Id: RCV000552965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Val1716Ile
CA384885087
NM_001369788.1:c.5146G>A