{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827906454",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 132,
          "referenceAllele": "D",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001341557.1:p.Asp132His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010235",
          "hgvs": "NM_001354628.2:c.394G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622628"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32135[alleleid]",
        "alleleId": 32135,
        "preferredName": "NM_000249.4(MLH1):c.394G>C (p.Asp132His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17096",
        "RCV": [
          "RCV000018628",
          "RCV000115482",
          "RCV000075697",
          "RCV000200983",
          "RCV001149364",
          "RCV000679275",
          "RCV001080488",
          "RCV003492297"
        ],
        "variationId": 17096
      }
    ]
  },
  "type": "amino-acid"
}