Canonical Allele Identifier: PA2826130779
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1213776
ClinVar RCV Id: RCV001591725 RCV003771779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Glu1830Asp
CA384888049
NM_001177984.2:c.5490G>C
CA384888052
NM_001177984.2:c.5490G>T