Canonical Allele Identifier: PA2828361510
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 253295
ClinVar RCV Id: RCV000239746 RCV001059522
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Gln1760Glu
CA10586300
NM_001369788.1:c.5278C>G