{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825428780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 450,
          "referenceAllele": "T",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001041637.1:p.Thr450Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA012788",
          "hgvs": "NM_001048172.1:c.1349C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150331"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185955[alleleid]",
        "alleleId": 185955,
        "preferredName": "NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188159",
        "RCV": [
          "RCV000168051",
          "RCV000562525",
          "RCV001589047"
        ],
        "variationId": 188159
      }
    ]
  },
  "type": "amino-acid"
}