{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA332487",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 726,
          "referenceAllele": "P",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Pro726Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA332483",
          "hgvs": "NM_000264.5:c.2177C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139589[alleleid]",
        "alleleId": 139589,
        "preferredName": "NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135877",
        "RCV": [
          "RCV000123007",
          "RCV000568151",
          "RCV001166904",
          "RCV003477519",
          "RCV004551203"
        ],
        "variationId": 135877
      }
    ]
  },
  "type": "amino-acid"
}