{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916042996",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78,
          "referenceAllele": "R",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341848.1:p.Arg78Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA332574",
          "hgvs": "NM_001354919.1:c.232C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625387"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139613[alleleid]",
        "alleleId": 139613,
        "preferredName": "NM_000264.5(PTCH1):c.430C>T (p.Arg144Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135901",
        "RCV": [
          "RCV000123036",
          "RCV001022266",
          "RCV003332124"
        ],
        "variationId": 135901
      }
    ]
  },
  "type": "amino-acid"
}