{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825492003",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 161,
          "referenceAllele": "P",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077072.1:p.Pro161Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138934",
          "hgvs": "NM_001083603.3:c.482C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150878"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809644[alleleid]",
        "alleleId": 809644,
        "preferredName": "NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/825234",
        "RCV": [
          "RCV001023159",
          "RCV002285434",
          "RCV001247643"
        ],
        "variationId": 825234
      }
    ]
  },
  "type": "amino-acid"
}