{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826041514",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 508,
          "referenceAllele": "L",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001161090.1:p.Leu508Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009197",
          "hgvs": "NM_001167618.3:c.1523T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155440"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95571[alleleid]",
        "alleleId": 95571,
        "preferredName": "NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90097",
        "RCV": [
          "RCV000075583",
          "RCV000216146",
          "RCV000478074",
          "RCV000627694",
          "RCV001355258",
          "RCV001823108"
        ],
        "variationId": 90097
      }
    ]
  },
  "type": "amino-acid"
}