{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573075339",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "I",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365544.1:p.Ile1291Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA205784",
          "hgvs": "NM_001378615.1:c.3872T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207111[alleleid]",
        "alleleId": 207111,
        "preferredName": "NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210610",
        "RCV": [
          "RCV000192749",
          "RCV000293449",
          "RCV000348318",
          "RCV001521745",
          "RCV001697269",
          "RCV004541237"
        ],
        "variationId": 210610
      }
    ]
  },
  "type": "amino-acid"
}