Canonical Allele Identifier: PA1139722657
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 969509
ClinVar RCV Id: RCV001244872
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Arg498Thr
CA385228924
NM_014191.4:c.1493G>C