{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645465550",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "G",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002731",
      "geneNCBI_id": 4921,
      "geneSymbol": "DDR2",
      "hgvs": [
        "NP_001014796.1:p.Gly253Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602599",
          "hgvs": "NM_001014796.3:c.757G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148974"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363021[alleleid]",
        "alleleId": 363021,
        "preferredName": "NM_006182.4(DDR2):c.757G>T (p.Gly253Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376142",
        "RCV": [
          "RCV000421258",
          "RCV000441392"
        ],
        "variationId": 376142
      }
    ]
  },
  "type": "amino-acid"
}