{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825669176",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "S",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NP_001122062.3:p.Ser239Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129645",
          "hgvs": "NM_001128590.3:c.716G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152260"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27193[alleleid]",
        "alleleId": 27193,
        "preferredName": "NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12154",
        "RCV": [
          "RCV000029655",
          "RCV000024069",
          "RCV000055819",
          "RCV000252481",
          "RCV001529036"
        ],
        "variationId": 12154
      }
    ]
  },
  "type": "amino-acid"
}