{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA257709",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "R",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NP_542410.2:p.Arg927Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA257707",
          "hgvs": "NM_080679.3:c.2779C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32163[alleleid]",
        "alleleId": 32163,
        "preferredName": "NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17124",
        "RCV": [
          "RCV000018662",
          "RCV000605765",
          "RCV001091818",
          "RCV003398542"
        ],
        "variationId": 17124
      }
    ]
  },
  "type": "amino-acid"
}