{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA272986",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "S",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_003233.4:p.Ser553Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020746",
          "hgvs": "NM_003242.6:c.1657T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169040"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171083[alleleid]",
        "alleleId": 171083,
        "preferredName": "NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161394",
        "RCV": [
          "RCV000152014",
          "RCV000148891",
          "RCV000239196",
          "RCV000241715",
          "RCV000337404",
          "RCV000587520",
          "RCV000680614",
          "RCV001094793",
          "RCV003935259",
          "RCV002277295"
        ],
        "variationId": 161394
      }
    ]
  },
  "type": "amino-acid"
}