Canonical Allele Identifier: PA916036708
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206812
ClinVar RCV Id: RCV000188933 RCV000724898 RCV000471568 RCV000986884 RCV001252612 RCV002314753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Thr486Ile
CA317408
NM_001353961.2:c.1457C>T