Canonical Allele Identifier: PA2828361613
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 530423
ClinVar RCV Id: RCV000636283 RCV002533204 RCV003994055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1863Cys
CA6571941
NM_001369788.1:c.5587C>T