Canonical Allele Identifier: PA916012237
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 640190
ClinVar RCV Id: RCV000793161
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Ala1850Val
CA384887413
NM_014191.4:c.5549C>T