Canonical Allele Identifier: PA2827292517
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2731188
ClinVar RCV Id: RCV003588334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Arg1629His
CA6571877
NM_001330260.2:c.4886G>A