Canonical Allele Identifier: PA2580370688
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1750018
ClinVar RCV Id: RCV002353285 RCV003389906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Tyr1947Cys
CA384889830
NM_014191.4:c.5840A>G