{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828035256",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1251,
          "referenceAllele": "R",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Arg1251Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138011",
          "hgvs": "NM_001354918.1:c.3752G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=524729[alleleid]",
        "alleleId": 524729,
        "preferredName": "NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524547",
        "RCV": [
          "RCV000628381",
          "RCV000764840",
          "RCV002358748"
        ],
        "variationId": 524547
      }
    ]
  },
  "type": "amino-acid"
}