{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825431484",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 279,
          "referenceAllele": "R",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001041639.1:p.Arg279Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014631",
          "hgvs": "NM_001048174.1:c.836G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150333"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150849[alleleid]",
        "alleleId": 150849,
        "preferredName": "NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141135",
        "RCV": [
          "RCV000129507",
          "RCV000484904",
          "RCV000467096",
          "RCV000586807"
        ],
        "variationId": 141135
      }
    ]
  },
  "type": "amino-acid"
}