{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA333944",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 582,
          "referenceAllele": "H",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077071.1:p.His582Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA333941",
          "hgvs": "NM_001083602.3:c.1744C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186109[alleleid]",
        "alleleId": 186109,
        "preferredName": "NM_000264.5(PTCH1):c.1942C>G (p.His648Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188061",
        "RCV": [
          "RCV000167878",
          "RCV002408725"
        ],
        "variationId": 188061
      }
    ]
  },
  "type": "amino-acid"
}