{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530394",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 70,
          "referenceAllele": "F",
          "start": 69
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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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          "@id": "http://reg.genome.network/allele/CA273215",
          "hgvs": "NM_001374625.1:c.208T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386777846",
          "hgvs": "NM_001374625.1:c.210T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386777847",
          "hgvs": "NM_001374625.1:c.210T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48969[alleleid]",
        "alleleId": 48969,
        "preferredName": "NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=461618[alleleid]",
        "alleleId": 461618,
        "preferredName": "NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2750141[alleleid]",
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        "preferredName": "NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40499",
        "RCV": [
          "RCV000033470",
          "RCV000151689",
          "RCV000586528",
          "RCV000686123",
          "RCV003150933",
          "RCV004532486"
        ],
        "variationId": 40499
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/477670",
        "RCV": [
          "RCV000534502",
          "RCV000593077"
        ],
        "variationId": 477670
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2582571",
        "RCV": [
          "RCV003333581",
          "RCV003333582",
          "RCV003333580"
        ],
        "variationId": 2582571
      }
    ]
  },
  "type": "amino-acid"
}