Canonical Allele Identifier: PA2827292894
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207134
ClinVar RCV Id: RCV000189292 RCV000529426 RCV002354533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Arg1932Pro
CA318305
NM_001330260.2:c.5795G>C