{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825508268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077074.1:p.Gly1145Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138016",
          "hgvs": "NM_001083605.3:c.3433G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374110723",
          "hgvs": "NM_001083605.3:c.3433G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638468[alleleid]",
        "alleleId": 638468,
        "preferredName": "NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809532[alleleid]",
        "alleleId": 809532,
        "preferredName": "NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/642542",
        "RCV": [
          "RCV000796022",
          "RCV003380718"
        ],
        "variationId": 642542
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/824336",
        "RCV": [
          "RCV001021353",
          "RCV001058371",
          "RCV003478644",
          "RCV004553559"
        ],
        "variationId": 824336
      }
    ]
  },
  "type": "amino-acid"
}