{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828034362",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Gly1041Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374112012",
          "hgvs": "NM_001354918.1:c.3121G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374112013",
          "hgvs": "NM_001354918.1:c.3121G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061769[alleleid]",
        "alleleId": 1061769,
        "preferredName": "NM_000264.5(PTCH1):c.3277G>A (p.Gly1093Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4170121[alleleid]",
        "alleleId": 4170121,
        "preferredName": "NM_000264.5(PTCH1):c.3277G>C (p.Gly1093Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074456",
        "RCV": [
          "RCV001387760"
        ],
        "variationId": 1074456
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4056181",
        "RCV": [
          "RCV005600447"
        ],
        "variationId": 4056181
      }
    ]
  },
  "type": "amino-acid"
}