{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916020688",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 22,
          "referenceAllele": "W",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NP_001295023.1:p.Trp22Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347951",
          "hgvs": "NM_001308094.2:c.64T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA370312666",
          "hgvs": "NM_001308094.2:c.64T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166600"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=217252[alleleid]",
        "alleleId": 217252,
        "preferredName": "NM_001308093.3(GATA4):c.685T>A (p.Trp229Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219230",
        "RCV": [
          "RCV000203594"
        ],
        "variationId": 219230
      }
    ]
  },
  "type": "amino-acid"
}