{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139694246",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 232,
          "referenceAllele": "E",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NP_001293139.1:p.Glu232del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321828",
          "hgvs": "NM_001306210.2:c.695_697del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166500"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210170[alleleid]",
        "alleleId": 210170,
        "preferredName": "NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213896",
        "RCV": [
          "RCV000197382",
          "RCV000825630",
          "RCV001380058"
        ],
        "variationId": 213896
      }
    ]
  },
  "type": "amino-acid"
}