Canonical Allele Identifier: PA2827750214
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189945
ClinVar RCV Id: RCV000180898 RCV002516538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Cys345Arg
CA303376
NM_001353948.2:c.1033T>C