{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139709497",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 413,
          "referenceAllele": "Q",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "NP_005723.2:p.Gln413Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127244051",
          "hgvs": "NM_005732.3:c.1237C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171344"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=944334[alleleid]",
        "alleleId": 944334,
        "preferredName": "NM_005732.4(RAD50):c.1237C>G (p.Gln413Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/960977",
        "RCV": [
          "RCV001234598"
        ],
        "variationId": 960977
      }
    ]
  },
  "type": "amino-acid"
}