Canonical Allele Identifier: PA2580370237
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2061988
ClinVar RCV Id: RCV002953098
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Arg220Cys
CA6571099
NM_014191.4:c.658C>T