Canonical Allele Identifier: PA658807952
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 500921
ClinVar RCV Id: RCV000594371 RCV001401136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Tyr1789Cys
CA236327597
NM_014191.4:c.5366A>G