{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830129199",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "P",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NP_542410.2:p.Pro514Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA212599",
          "hgvs": "NM_080679.3:c.1540C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32168[alleleid]",
        "alleleId": 32168,
        "preferredName": "NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17129",
        "RCV": [
          "RCV000018667",
          "RCV000217775",
          "RCV000584845",
          "RCV001375391"
        ],
        "variationId": 17129
      }
    ]
  },
  "type": "amino-acid"
}