{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826462451",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 471,
          "referenceAllele": "W",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001245203.1:p.Trp471Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352069018",
          "hgvs": "NM_001258274.3:c.1412G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160223"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=487019[alleleid]",
        "alleleId": 487019,
        "preferredName": "NM_000249.4(MLH1):c.2135G>C (p.Trp712Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/495764",
        "RCV": [
          "RCV000586210"
        ],
        "variationId": 495764
      }
    ]
  },
  "type": "amino-acid"
}