{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826826435",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 41,
          "referenceAllele": "D",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001280121.1:p.Asp41His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA013648",
          "hgvs": "NM_001293192.2:c.121G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164968"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150528[alleleid]",
        "alleleId": 150528,
        "preferredName": "NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/140814",
        "RCV": [
          "RCV000129002",
          "RCV000204817",
          "RCV000481844",
          "RCV000656908",
          "RCV004532541"
        ],
        "variationId": 140814
      }
    ]
  },
  "type": "amino-acid"
}