Canonical Allele Identifier: PA2827781469
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 958506
ClinVar RCV Id: RCV001231687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Thr184Ile
CA349075445
NM_001353957.2:c.551C>T