Canonical Allele Identifier: PA2827750435
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68506
ClinVar RCV Id: RCV000059378 RCV000188863 RCV000636386 RCV001198232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg393His
CA284871
NM_001353948.2:c.1178G>A