Canonical Allele Identifier: PA2828361500
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 500921
ClinVar RCV Id: RCV000594371 RCV001401136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Tyr1748Cys
CA236327597
NM_001369788.1:c.5243A>G