Canonical Allele Identifier: PA2827292631
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1718528
ClinVar RCV Id: RCV002296665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Ile1751Val
CA384884943
NM_001330260.2:c.5251A>G