Canonical Allele Identifier: PA2827292688
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 3067149
ClinVar RCV Id: RCV003992838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Thr1787Pro
CA384885532
NM_001330260.2:c.5359A>C