{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580243530",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 17,
          "referenceAllele": "C",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "NP_001366129.1:p.Cys17Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2580099091",
          "hgvs": "NM_001379200.1:c.49T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738428"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1891509[alleleid]",
        "alleleId": 1891509,
        "preferredName": "NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2163092",
        "RCV": [
          "RCV003091608"
        ],
        "variationId": 2163092
      }
    ]
  },
  "type": "amino-acid"
}