Canonical Allele Identifier: PA318293
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207127
ClinVar RCV Id: RCV000189285
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Ala1650Val
CA318292
NM_014191.4:c.4949C>T