{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827558205",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 215,
          "referenceAllele": "F",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001337580.1:p.Phe215Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA012057",
          "hgvs": "NM_001350651.2:c.643T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA340133668",
          "hgvs": "NM_001350651.2:c.645C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA340133670",
          "hgvs": "NM_001350651.2:c.645C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624638"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150960[alleleid]",
        "alleleId": 150960,
        "preferredName": "NM_001048174.2(MUTYH):c.988T>C (p.Phe330Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141246",
        "RCV": [
          "RCV000129675",
          "RCV000226144",
          "RCV000759879"
        ],
        "variationId": 141246
      }
    ]
  },
  "type": "amino-acid"
}