{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530601",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
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          "end": 284,
          "referenceAllele": "F",
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      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001374625.1:c.850T>C"
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        },
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          "@id": "http://reg.genome.network/allele/CA386790412",
          "hgvs": "NM_001374625.1:c.852T>A"
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
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  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48998[alleleid]",
        "alleleId": 48998,
        "preferredName": "NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53782[alleleid]",
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        "preferredName": "NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1191330[alleleid]",
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        "preferredName": "NM_002834.5(PTPN11):c.855T>A (p.Phe285Leu)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40528",
        "RCV": [
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          "RCV000077861",
          "RCV000231840",
          "RCV000586058",
          "RCV000762885",
          "RCV000856809",
          "RCV002288529",
          "RCV004018710",
          "RCV004532490"
        ],
        "variationId": 40528
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44615",
        "RCV": [
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          "RCV000159052",
          "RCV000587757",
          "RCV000687570",
          "RCV002288537"
        ],
        "variationId": 44615
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1201246",
        "RCV": [
          "RCV001566530"
        ],
        "variationId": 1201246
      }
    ]
  },
  "type": "amino-acid"
}