{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139750329",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3,
          "referenceAllele": "V",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NP_116027.2:p.Val3Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354409342",
          "hgvs": "NM_032638.5:c.8T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179755"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=827517[alleleid]",
        "alleleId": 827517,
        "preferredName": "NM_032638.5(GATA2):c.8T>C (p.Val3Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/835495",
        "RCV": [
          "RCV001036387"
        ],
        "variationId": 835495
      }
    ]
  },
  "type": "amino-acid"
}