Canonical Allele Identifier: PA242782
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 196029
ClinVar RCV Id: RCV000176750 RCV002516713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Pro1718Ser
CA242781
NM_014191.4:c.5152C>T