{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097790",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 989,
          "referenceAllele": "R",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NP_001835.3:p.Arg989Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250676",
          "hgvs": "NM_001844.5:c.2965C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167728"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32405[alleleid]",
        "alleleId": 32405,
        "preferredName": "NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17366",
        "RCV": [
          "RCV000018910",
          "RCV000478360",
          "RCV000762895",
          "RCV000995718"
        ],
        "variationId": 17366
      }
    ]
  },
  "type": "amino-acid"
}