{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA128575",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 398,
          "referenceAllele": "R",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NP_116027.2:p.Arg398Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128572",
          "hgvs": "NM_032638.5:c.1192C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179755"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38664[alleleid]",
        "alleleId": 38664,
        "preferredName": "NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29709",
        "RCV": [
          "RCV000502442",
          "RCV000022559",
          "RCV000984831",
          "RCV001384284",
          "RCV000445214",
          "RCV001541956",
          "RCV004018663"
        ],
        "variationId": 29709
      }
    ]
  },
  "type": "amino-acid"
}