{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916042898",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 376,
          "referenceAllele": "F",
          "start": 375
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      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA337678",
          "hgvs": "NM_001354918.1:c.1128C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374119404",
          "hgvs": "NM_001354918.1:c.1128C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374119409",
          "hgvs": "NM_001354918.1:c.1126T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212742[alleleid]",
        "alleleId": 212742,
        "preferredName": "NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2085278[alleleid]",
        "alleleId": 2085278,
        "preferredName": "NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216366",
        "RCV": [
          "RCV000198141",
          "RCV003165466"
        ],
        "variationId": 216366
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2028643",
        "RCV": [
          "RCV002863572"
        ],
        "variationId": 2028643
      }
    ]
  },
  "type": "amino-acid"
}