Canonical Allele Identifier: PA2827790259
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189961
ClinVar RCV Id: RCV000180915 RCV001376917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Arg117Pro
CA303413
NM_001353961.2:c.350G>C