{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139668804",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NP_001002295.1:p.Cys264Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375973395",
          "hgvs": "NM_001002295.2:c.790T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375973397",
          "hgvs": "NM_001002295.2:c.791G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147742"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=963362[alleleid]",
        "alleleId": 963362,
        "preferredName": "NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/975096",
        "RCV": [
          "RCV001251506"
        ],
        "variationId": 975096
      }
    ]
  },
  "type": "amino-acid"
}