Canonical Allele Identifier: PA2827290841
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1176941
ClinVar RCV Id: RCV001532691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Ala218Glu
CA385224600
NM_001330260.2:c.653C>A