Canonical Allele Identifier: PA2499278050
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1012614
ClinVar RCV Id: RCV001310653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Leu1865Val
CA384887854
NM_014191.4:c.5593C>G