{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102016",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 244,
          "referenceAllele": "K",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NP_000098.1:p.Lys244Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254554",
          "hgvs": "NM_000107.3:c.730A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23826[alleleid]",
        "alleleId": 23826,
        "preferredName": "NM_000107.3(DDB2):c.730A>G (p.Lys244Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8787",
        "RCV": [
          "RCV000009332"
        ],
        "variationId": 8787
      }
    ]
  },
  "type": "amino-acid"
}