{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125564",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 62,
          "referenceAllele": "K",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NP_000508.1:p.Lys62Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA125563",
          "hgvs": "NM_000517.6:c.186G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA276414757",
          "hgvs": "NM_000517.6:c.186G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30672[alleleid]",
        "alleleId": 30672,
        "preferredName": "NM_000517.6(HBA2):c.186G>C (p.Lys62Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15633",
        "RCV": [
          "RCV000016900",
          "RCV000641281"
        ],
        "variationId": 15633
      }
    ]
  },
  "type": "amino-acid"
}