{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827893642",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 442,
          "referenceAllele": "F",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001341548.1:p.Phe442Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008321",
          "hgvs": "NM_001354619.2:c.1325T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622651"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95486[alleleid]",
        "alleleId": 95486,
        "preferredName": "NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90012",
        "RCV": [
          "RCV000075497",
          "RCV000589365",
          "RCV000790627",
          "RCV001014231",
          "RCV001209526",
          "RCV001355274",
          "RCV003451098"
        ],
        "variationId": 90012
      }
    ]
  },
  "type": "amino-acid"
}