{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827901294",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 288,
          "referenceAllele": "Y",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001341553.1:p.Tyr288Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007678",
          "hgvs": "NM_001354624.2:c.863A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45207[alleleid]",
        "alleleId": 45207,
        "preferredName": "NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36545",
        "RCV": [
          "RCV000131964",
          "RCV000524258",
          "RCV000662690",
          "RCV000587551",
          "RCV001093659",
          "RCV002267800",
          "RCV003996129"
        ],
        "variationId": 36545
      }
    ]
  },
  "type": "amino-acid"
}