{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827558319",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 253,
          "referenceAllele": "G",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_001337580.1:p.Gly253Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA011561",
          "hgvs": "NM_001350651.2:c.758G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624638"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20333[alleleid]",
        "alleleId": 20333,
        "preferredName": "NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5294",
        "RCV": [
          "RCV000005614",
          "RCV000005615",
          "RCV000079501",
          "RCV000115748",
          "RCV000121598",
          "RCV000144637",
          "RCV000493920",
          "RCV000515320",
          "RCV000477907",
          "RCV000501239",
          "RCV001262769",
          "RCV001574076",
          "RCV001580144",
          "RCV002051775",
          "RCV004528084"
        ],
        "variationId": 5294
      }
    ]
  },
  "type": "amino-acid"
}