{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573177525",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 53,
          "referenceAllele": "E",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077072.1:p.Glu53Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5139095",
          "hgvs": "NM_001083603.3:c.157G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150878"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1683997[alleleid]",
        "alleleId": 1683997,
        "preferredName": "NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1691518",
        "RCV": [
          "RCV002254847",
          "RCV002488633",
          "RCV003434460"
        ],
        "variationId": 1691518
      }
    ]
  },
  "type": "amino-acid"
}