Canonical Allele Identifier: PA2827787040
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68573
ClinVar RCV Id: RCV000059449 RCV000189020 RCV002470754
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Ile1894Thr
CA285030
NM_001353958.2:c.5681T>C