Canonical Allele Identifier: PA2828361453
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2162336
ClinVar RCV Id: RCV003091228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Leu1682Val
CA384884126
NM_001369788.1:c.5044C>G