{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658804699",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1068,
          "referenceAllele": "F",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Phe1068Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA5138214",
          "hgvs": "NM_000264.5:c.3204C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374112160",
          "hgvs": "NM_000264.5:c.3204C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374112165",
          "hgvs": "NM_000264.5:c.3202T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=524737[alleleid]",
        "alleleId": 524737,
        "preferredName": "NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=723672[alleleid]",
        "alleleId": 723672,
        "preferredName": "NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524508",
        "RCV": [
          "RCV000628340",
          "RCV002448920",
          "RCV003327432"
        ],
        "variationId": 524508
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/710664",
        "RCV": [
          "RCV000882287",
          "RCV001759663",
          "RCV003169222"
        ],
        "variationId": 710664
      }
    ]
  },
  "type": "amino-acid"
}