{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827115608",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 433,
          "referenceAllele": "T",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308935.1:p.Thr433Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009697",
          "hgvs": "NM_001322006.2:c.1298C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624538"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50141[alleleid]",
        "alleleId": 50141,
        "preferredName": "NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41702",
        "RCV": [
          "RCV000034616",
          "RCV000076810",
          "RCV000079104",
          "RCV000130906",
          "RCV000625385",
          "RCV001081087",
          "RCV001353499"
        ],
        "variationId": 41702
      }
    ]
  },
  "type": "amino-acid"
}