{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827304490",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 506,
          "referenceAllele": "E",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NP_001317276.1:p.Glu506Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA194035",
          "hgvs": "NM_001330347.2:c.1516G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622887"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183514[alleleid]",
        "alleleId": 183514,
        "preferredName": "NM_005591.4(MRE11):c.1516G>A (p.Glu506Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186164",
        "RCV": [
          "RCV000165707",
          "RCV003468753"
        ],
        "variationId": 186164
      }
    ]
  },
  "type": "amino-acid"
}