{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108616",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1043,
          "referenceAllele": "M",
          "start": 1042
        }
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      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NP_006209.2:p.Met1043Ile"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA183868",
          "hgvs": "NM_006218.4:c.3129G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA210107",
          "hgvs": "NM_006218.4:c.3129G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA355285820",
          "hgvs": "NM_006218.4:c.3129G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171778"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=173901[alleleid]",
        "alleleId": 173901,
        "preferredName": "NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213942[alleleid]",
        "alleleId": 213942,
        "preferredName": "NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179173",
        "RCV": [
          "RCV000155959",
          "RCV000201237",
          "RCV000420209",
          "RCV000420901",
          "RCV000423694",
          "RCV000426516",
          "RCV000431600",
          "RCV000438783",
          "RCV000442493",
          "RCV000433300",
          "RCV000430907",
          "RCV000433967",
          "RCV000441596",
          "RCV000699681",
          "RCV001526545",
          "RCV002293423"
        ],
        "variationId": 179173
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217292",
        "RCV": [
          "RCV000201236",
          "RCV000442578",
          "RCV000631214",
          "RCV003320599"
        ],
        "variationId": 217292
      }
    ]
  },
  "type": "amino-acid"
}