{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645495005",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 542,
          "referenceAllele": "E",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NP_006209.2:p.Glu542Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602697",
          "hgvs": "NM_006218.4:c.1624G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171778"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363123[alleleid]",
        "alleleId": 363123,
        "preferredName": "NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376244",
        "RCV": [
          "RCV000418640",
          "RCV000418838",
          "RCV000421205",
          "RCV000417562",
          "RCV000425149",
          "RCV000423606",
          "RCV000429976",
          "RCV000433655",
          "RCV000428863",
          "RCV000434732",
          "RCV000435434",
          "RCV000440003",
          "RCV000423371",
          "RCV000435331",
          "RCV000441301",
          "RCV000444624",
          "RCV000440174",
          "RCV000785596"
        ],
        "variationId": 376244
      }
    ]
  },
  "type": "amino-acid"
}