{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916042762",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "R",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Arg13Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334329",
          "hgvs": "NM_001354918.1:c.37C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186113[alleleid]",
        "alleleId": 186113,
        "preferredName": "NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188208",
        "RCV": [
          "RCV000168136",
          "RCV000388546",
          "RCV000512831",
          "RCV000567817",
          "RCV000764853",
          "RCV004552936"
        ],
        "variationId": 188208
      }
    ]
  },
  "type": "amino-acid"
}