{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139668305",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 204,
          "referenceAllele": "E",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003416",
      "geneNCBI_id": 2057,
      "geneSymbol": "EPOR",
      "hgvs": [
        "NP_000112.1:p.Glu204Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9210689",
          "hgvs": "NM_000121.4:c.610G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146671"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=879877[alleleid]",
        "alleleId": 879877,
        "preferredName": "NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/890739",
        "RCV": [
          "RCV001125537",
          "RCV002556720"
        ],
        "variationId": 890739
      }
    ]
  },
  "type": "amino-acid"
}