Canonical Allele Identifier: PA2827292518
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 646657
ClinVar RCV Id: RCV000800992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Arg1629Cys
CA384880442
NM_001330260.2:c.4885C>T