Canonical Allele Identifier: PA2827291426
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2859969
ClinVar RCV Id: RCV003752603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Leu682Val
CA384878504
NM_001330260.2:c.2044T>G