{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916020519",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "referenceAllele": "R",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NP_001293139.1:p.Arg241Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA323375",
          "hgvs": "NM_001306210.2:c.721A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166500"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210174[alleleid]",
        "alleleId": 210174,
        "preferredName": "NM_004612.4(TGFBR1):c.709A>G (p.Arg237Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213876",
        "RCV": [
          "RCV000198846",
          "RCV002515371"
        ],
        "variationId": 213876
      }
    ]
  },
  "type": "amino-acid"
}