Canonical Allele Identifier: PA2828361543
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 640190
ClinVar RCV Id: RCV000793161
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Ala1809Val
CA384887413
NM_001369788.1:c.5426C>T