Canonical Allele Identifier: PA916012188
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_055006.1:p.Arg1629Cys
CA384880442
NM_014191.4:c.4885C>T