{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA333768",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 702,
          "referenceAllele": "P",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Pro702Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA333764",
          "hgvs": "NM_000264.5:c.2105C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181213[alleleid]",
        "alleleId": 181213,
        "preferredName": "NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183062",
        "RCV": [
          "RCV000161923",
          "RCV000571964",
          "RCV001560072"
        ],
        "variationId": 183062
      }
    ]
  },
  "type": "amino-acid"
}