Canonical Allele Identifier: PA2499254435
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1104115
ClinVar RCV Id: RCV001428051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Lys229Glu
CA385224834
NM_001369788.1:c.685A>G