{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250672",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NP_149162.2:p.Gly1128Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250671",
          "hgvs": "NM_033150.3:c.3382G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180088"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32400[alleleid]",
        "alleleId": 32400,
        "preferredName": "NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17361",
        "RCV": [
          "RCV000018905",
          "RCV000484896",
          "RCV002247358",
          "RCV002272023",
          "RCV003152666",
          "RCV003320353",
          "RCV001729352",
          "RCV002276564"
        ],
        "variationId": 17361
      }
    ]
  },
  "type": "amino-acid"
}