{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA281632",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "referenceAllele": "R",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_001020018.1:p.Arg485Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020661",
          "hgvs": "NM_001024847.2:c.1453C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149275"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27553[alleleid]",
        "alleleId": 27553,
        "preferredName": "NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12514",
        "RCV": [
          "RCV000199227",
          "RCV000252297",
          "RCV000654788",
          "RCV000013339"
        ],
        "variationId": 12514
      }
    ]
  },
  "type": "amino-acid"
}