Canonical Allele Identifier: PA2827781180
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206885
ClinVar RCV Id: RCV000189026 RCV001334844 RCV002514050 RCV002514051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Glu1959Gly
CA317682
NM_001353955.2:c.5876A>G