{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125570",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 48,
          "referenceAllele": "D",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NP_000508.1:p.Asp48His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA125569",
          "hgvs": "NM_000517.6:c.142G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30675[alleleid]",
        "alleleId": 30675,
        "preferredName": "NM_000517.4(HBA2):c.142G>C (p.Asp48His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15636",
        "RCV": [
          "RCV000016911",
          "RCV000016913",
          "RCV000016910",
          "RCV000016912",
          "RCV001544589",
          "RCV001275680"
        ],
        "variationId": 15636
      }
    ]
  },
  "type": "amino-acid"
}