Canonical Allele Identifier: PA2827292746
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_001317189.1:p.Cys1844Ser
CA384887237
NM_001330260.2:c.5530T>A
CA384887245
NM_001330260.2:c.5531G>C