Canonical Allele Identifier: PA2827292933
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1013956
ClinVar RCV Id: RCV001312620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Gly1964Arg
CA6571966
NM_001330260.2:c.5890G>A
CA384890300
NM_001330260.2:c.5890G>C