Canonical Allele Identifier: PA2828360921
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 130244
ClinVar RCV Id: RCV000118280 RCV000226089 RCV000992912 RCV001089736 RCV002312498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1026Cys
CA289034
NM_001369788.1:c.3076C>T