{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645510647",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 123,
          "referenceAllele": "H",
          "start": 122
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      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NP_000508.1:p.His123Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7770181",
          "hgvs": "NM_000517.6:c.369C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393994551",
          "hgvs": "NM_000517.6:c.369C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=433152[alleleid]",
        "alleleId": 433152,
        "preferredName": "NM_000517.6(HBA2):c.369C>G (p.His123Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2749141[alleleid]",
        "alleleId": 2749141,
        "preferredName": "NM_000517.6(HBA2):c.369C>A (p.His123Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/439771",
        "RCV": [
          "RCV002282188",
          "RCV003147493",
          "RCV003147492",
          "RCV002476016",
          "RCV000985723",
          "RCV001275681",
          "RCV003147491"
        ],
        "variationId": 439771
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2581562",
        "RCV": [
          "RCV003331967"
        ],
        "variationId": 2581562
      }
    ]
  },
  "type": "amino-acid"
}