{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828494338",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 159,
          "referenceAllele": "P",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NP_001361203.1:p.Pro159Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA212683",
          "hgvs": "NM_001374274.1:c.476C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710441"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39058[alleleid]",
        "alleleId": 39058,
        "preferredName": "NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30103",
        "RCV": [
          "RCV000023008",
          "RCV000030949",
          "RCV000490358",
          "RCV000526826",
          "RCV001007695",
          "RCV001195378",
          "RCV001252768",
          "RCV001555802",
          "RCV002272027"
        ],
        "variationId": 30103
      }
    ]
  },
  "type": "amino-acid"
}