Canonical Allele Identifier: PA2828361386
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1008700
ClinVar RCV Id: RCV001306078 RCV001542091 RCV001780241 RCV003992492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1597Cys
CA384880501
NM_001369788.1:c.4789C>T