{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA147294",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 9,
          "referenceAllele": "T",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NP_001835.3:p.Thr9Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA147293",
          "hgvs": "NM_001844.5:c.25A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167728"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99690[alleleid]",
        "alleleId": 99690,
        "preferredName": "NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93788",
        "RCV": [
          "RCV000079725",
          "RCV000406531",
          "RCV000342882",
          "RCV001512353"
        ],
        "variationId": 93788
      }
    ]
  },
  "type": "amino-acid"
}