Canonical Allele Identifier: PA2828360794
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 135651
ClinVar RCV Id: RCV000122729 RCV000189267 RCV000624041 RCV001249685 RCV003992189 RCV003488395 RCV000803456 RCV003224864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg850Gln
CA163107
NM_001369788.1:c.2549G>A