{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA312697",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "R",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016732",
      "geneNCBI_id": 84693,
      "geneSymbol": "MCEE",
      "hgvs": [
        "NP_115990.3:p.Arg143Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA312696",
          "hgvs": "NM_032601.4:c.427C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200012[alleleid]",
        "alleleId": 200012,
        "preferredName": "NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203810",
        "RCV": [
          "RCV000203412",
          "RCV000593824",
          "RCV002282020"
        ],
        "variationId": 203810
      }
    ]
  },
  "type": "amino-acid"
}