Canonical Allele Identifier: PA2499254433
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1191017
ClinVar RCV Id: RCV001551937
ClinVar Variation Id: 1612229
ClinVar RCV Id: RCV002168476
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg223Ser
CA385224724
NM_001369788.1:c.669G>C
CA385224726
NM_001369788.1:c.669G>T