Canonical Allele Identifier: PA2580230140
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1974720
ClinVar RCV Id: RCV002741545
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Ala218Val
CA6571122
NM_001369788.1:c.653C>T