{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827115607",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 433,
          "referenceAllele": "T",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308935.1:p.Thr433Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA043685",
          "hgvs": "NM_001322006.2:c.1298C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624538"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240119[alleleid]",
        "alleleId": 240119,
        "preferredName": "NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237886",
        "RCV": [
          "RCV000227437",
          "RCV000479471",
          "RCV000570329",
          "RCV002288911",
          "RCV003998786"
        ],
        "variationId": 237886
      }
    ]
  },
  "type": "amino-acid"
}