Canonical Allele Identifier: PA2827292538
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2001117
ClinVar RCV Id: RCV002810928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Met1645Arg
CA384880577
NM_001330260.2:c.4934T>G