{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825584140",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NP_001116105.2:p.Thr544Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115525",
          "hgvs": "NM_001122633.3:c.1631C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708091"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17458[alleleid]",
        "alleleId": 17458,
        "preferredName": "NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2419",
        "RCV": [
          "RCV000002520",
          "RCV003466784"
        ],
        "variationId": 2419
      }
    ]
  },
  "type": "amino-acid"
}