Canonical Allele Identifier: PA2828361539
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1707933
ClinVar RCV Id: RCV002287094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Cys1803Ser
CA384887237
NM_001369788.1:c.5407T>A
CA384887245
NM_001369788.1:c.5408G>C