Canonical Allele Identifier: PA2828361658
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1878994
ClinVar RCV Id: RCV002511495 RCV002569446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1919Leu
CA6571964
NM_001369788.1:c.5756G>T