{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825507521",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 823,
          "referenceAllele": "F",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077074.1:p.Phe823Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138282",
          "hgvs": "NM_001083605.3:c.2469C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374112775",
          "hgvs": "NM_001083605.3:c.2469C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374112780",
          "hgvs": "NM_001083605.3:c.2467T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2724248[alleleid]",
        "alleleId": 2724248,
        "preferredName": "NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2561877",
        "RCV": [
          "RCV003305768",
          "RCV003777125",
          "RCV003477072"
        ],
        "variationId": 2561877
      }
    ]
  },
  "type": "amino-acid"
}