{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828035510",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1298,
          "referenceAllele": "R",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Arg1298Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA196558088",
          "hgvs": "NM_001354918.1:c.3893G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=564225[alleleid]",
        "alleleId": 564225,
        "preferredName": "NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/577136",
        "RCV": [
          "RCV000699814",
          "RCV000764836",
          "RCV001021745",
          "RCV004547867"
        ],
        "variationId": 577136
      }
    ]
  },
  "type": "amino-acid"
}