{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828033887",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 893,
          "referenceAllele": "R",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Arg893Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215700",
          "hgvs": "NM_001354918.1:c.2678G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50096[alleleid]",
        "alleleId": 50096,
        "preferredName": "NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41657",
        "RCV": [
          "RCV000034568",
          "RCV000195909",
          "RCV001016730"
        ],
        "variationId": 41657
      }
    ]
  },
  "type": "amino-acid"
}