{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915957292",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 171,
          "referenceAllele": "Q",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NP_000098.1:p.Gln171Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5972543",
          "hgvs": "NM_000107.3:c.511C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=701781[alleleid]",
        "alleleId": 701781,
        "preferredName": "NM_000107.3(DDB2):c.511C>G (p.Gln171Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/771441",
        "RCV": [
          "RCV000950762",
          "RCV001293007"
        ],
        "variationId": 771441
      }
    ]
  },
  "type": "amino-acid"
}