{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825508274",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1146,
          "referenceAllele": "R",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077074.1:p.Arg1146Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215715",
          "hgvs": "NM_001083605.3:c.3437G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50101[alleleid]",
        "alleleId": 50101,
        "preferredName": "NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41662",
        "RCV": [
          "RCV000034574",
          "RCV001021367",
          "RCV001086011"
        ],
        "variationId": 41662
      }
    ]
  },
  "type": "amino-acid"
}