{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827886001",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 309,
          "referenceAllele": "L",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001341544.1:p.Leu309Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006231",
          "hgvs": "NM_001354615.2:c.926T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622700"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95292[alleleid]",
        "alleleId": 95292,
        "preferredName": "NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89818",
        "RCV": [
          "RCV000075292",
          "RCV000570739",
          "RCV001212034",
          "RCV003451045"
        ],
        "variationId": 89818
      }
    ]
  },
  "type": "amino-acid"
}