{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826827204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 294,
          "referenceAllele": "Q",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001280121.1:p.Gln294Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA011596",
          "hgvs": "NM_001293192.2:c.881A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164968"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20338[alleleid]",
        "alleleId": 20338,
        "preferredName": "NM_001048174.2(MUTYH):c.1157A>G (p.Gln386Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5299",
        "RCV": [
          "RCV000005620"
        ],
        "variationId": 5299
      }
    ]
  },
  "type": "amino-acid"
}