{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827911491",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001341559.1:p.Gly244Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA011836",
          "hgvs": "NM_001354630.2:c.731G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622760"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95813[alleleid]",
        "alleleId": 95813,
        "preferredName": "NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90339",
        "RCV": [
          "RCV000075830",
          "RCV000573119",
          "RCV001210008",
          "RCV001354491",
          "RCV001804824",
          "RCV003466961"
        ],
        "variationId": 90339
      }
    ]
  },
  "type": "amino-acid"
}