{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825486934",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 597,
          "referenceAllele": "Q",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077071.1:p.Gln597His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138470",
          "hgvs": "NM_001083602.3:c.1791G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374115890",
          "hgvs": "NM_001083602.3:c.1791G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240679[alleleid]",
        "alleleId": 240679,
        "preferredName": "NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237462",
        "RCV": [
          "RCV000563327",
          "RCV000513814",
          "RCV000764847",
          "RCV001080435",
          "RCV004547583"
        ],
        "variationId": 237462
      }
    ]
  },
  "type": "amino-acid"
}