{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829726083",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_036354.1:p.Gly213Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA058472",
          "hgvs": "NM_012222.3:c.638G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232255[alleleid]",
        "alleleId": 232255,
        "preferredName": "NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/231491",
        "RCV": [
          "RCV000216464",
          "RCV000542510",
          "RCV001576133"
        ],
        "variationId": 231491
      }
    ]
  },
  "type": "amino-acid"
}