{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA330888",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_000240.1:p.Cys680Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008266",
          "hgvs": "NM_000249.4:c.2038T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146796"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95480[alleleid]",
        "alleleId": 95480,
        "preferredName": "NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90006",
        "RCV": [
          "RCV000075490",
          "RCV000215088",
          "RCV000791351",
          "RCV001353998",
          "RCV003451096"
        ],
        "variationId": 90006
      }
    ]
  },
  "type": "amino-acid"
}