{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829675290",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
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          "end": 886,
          "referenceAllele": "L",
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      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_006920.6:c.2658G>T"
        },
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          "@id": "http://reg.genome.network/allele/CA349061589",
          "hgvs": "NM_006920.6:c.2658G>C"
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172428"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790100[alleleid]",
        "alleleId": 790100,
        "preferredName": "NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1000253[alleleid]",
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        "preferredName": "NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801803",
        "RCV": [
          "RCV000986895"
        ],
        "variationId": 801803
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1012963",
        "RCV": [
          "RCV001311217"
        ],
        "variationId": 1012963
      }
    ]
  },
  "type": "amino-acid"
}