{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826830019",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "referenceAllele": "R",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001280125.1:p.Arg306Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA011618",
          "hgvs": "NM_001293196.2:c.916C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164971"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50192[alleleid]",
        "alleleId": 50192,
        "preferredName": "NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41753",
        "RCV": [
          "RCV000034670",
          "RCV000115756",
          "RCV000119122",
          "RCV000144640",
          "RCV000212715",
          "RCV003492335",
          "RCV004528163"
        ],
        "variationId": 41753
      }
    ]
  },
  "type": "amino-acid"
}