{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825489125",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 690,
          "referenceAllele": "L",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077071.1:p.Leu690Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374114739",
          "hgvs": "NM_001083602.3:c.2068C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1840919[alleleid]",
        "alleleId": 1840919,
        "preferredName": "NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1788705",
        "RCV": [
          "RCV002443814",
          "RCV003098764",
          "RCV003151408",
          "RCV003126251"
        ],
        "variationId": 1788705
      }
    ]
  },
  "type": "amino-acid"
}