{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829287819",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 67,
          "referenceAllele": "R",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NP_001386803.1:p.Arg67His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5972456",
          "hgvs": "NM_001399874.1:c.200G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS821600"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2359795[alleleid]",
        "alleleId": 2359795,
        "preferredName": "NM_000107.3(DDB2):c.200G>A (p.Arg67His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2373615",
        "RCV": [
          "RCV003004848"
        ],
        "variationId": 2373615
      }
    ]
  },
  "type": "amino-acid"
}