{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA312701",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 60,
          "referenceAllele": "K",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016732",
      "geneNCBI_id": 84693,
      "geneSymbol": "MCEE",
      "hgvs": [
        "NP_115990.3:p.Lys60Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA312700",
          "hgvs": "NM_032601.4:c.178A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200013[alleleid]",
        "alleleId": 200013,
        "preferredName": "NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203812",
        "RCV": [
          "RCV000186009",
          "RCV000203363",
          "RCV000756325"
        ],
        "variationId": 203812
      }
    ]
  },
  "type": "amino-acid"
}