{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826823617",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 197,
          "referenceAllele": "Q",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001280119.1:p.Gln197Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340135370",
          "hgvs": "NM_001293190.2:c.589C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164966"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2837907[alleleid]",
        "alleleId": 2837907,
        "preferredName": "NM_001048174.2(MUTYH):c.544C>G (p.Gln182Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676895",
        "RCV": [
          "RCV003463073"
        ],
        "variationId": 2676895
      }
    ]
  },
  "type": "amino-acid"
}