Canonical Allele Identifier: PA2827778214
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2016406
ClinVar RCV Id: RCV002843885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Glu1983Lys
CA1942618
NM_001353954.2:c.5947G>A