{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117383",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "Y",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001121897.1:p.Tyr179Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA011761",
          "hgvs": "NM_001128425.2:c.536A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152250"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20332[alleleid]",
        "alleleId": 20332,
        "preferredName": "NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5293",
        "RCV": [
          "RCV000005612",
          "RCV000005613",
          "RCV000121607",
          "RCV000079502",
          "RCV000144631",
          "RCV000115766",
          "RCV001554314",
          "RCV002476933",
          "RCV004528083"
        ],
        "variationId": 5293
      }
    ]
  },
  "type": "amino-acid"
}