{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829426085",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 230,
          "referenceAllele": "T",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_003233.4:p.Thr230Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA049688",
          "hgvs": "NM_003242.6:c.689C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169040"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=909234[alleleid]",
        "alleleId": 909234,
        "preferredName": "NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/920418",
        "RCV": [
          "RCV001179173",
          "RCV001375501",
          "RCV001551469",
          "RCV004006539"
        ],
        "variationId": 920418
      }
    ]
  },
  "type": "amino-acid"
}