{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829726880",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 471,
          "referenceAllele": "R",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_036354.1:p.Arg471His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA012768",
          "hgvs": "NM_012222.3:c.1412G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181656[alleleid]",
        "alleleId": 181656,
        "preferredName": "NM_001048174.2(MUTYH):c.1337G>A (p.Arg446His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187172",
        "RCV": [
          "RCV000166871",
          "RCV000640377",
          "RCV002286709"
        ],
        "variationId": 187172
      }
    ]
  },
  "type": "amino-acid"
}