{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA189957",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2491,
          "referenceAllele": "M",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_000029.2:p.Met2491Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA013705",
          "hgvs": "NM_000038.6:c.7472T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146591"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182471[alleleid]",
        "alleleId": 182471,
        "preferredName": "NM_000038.6(APC):c.7472T>C (p.Met2491Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184756",
        "RCV": [
          "RCV000164068",
          "RCV000226252",
          "RCV000590327",
          "RCV003995309"
        ],
        "variationId": 184756
      }
    ]
  },
  "type": "amino-acid"
}