{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825491855",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 123,
          "referenceAllele": "N",
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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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          "hgvs": "NM_001083603.3:c.369C>G"
        },
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          "@id": "http://reg.genome.network/allele/CA374120177",
          "hgvs": "NM_001083603.3:c.369C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150878"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459728[alleleid]",
        "alleleId": 459728,
        "preferredName": "NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3391646[alleleid]",
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        "preferredName": "NM_000264.5(PTCH1):c.372C>A (p.Asn124Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453863",
        "RCV": [
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          "RCV002350159"
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        "variationId": 453863
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3231024",
        "RCV": [
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        ],
        "variationId": 3231024
      }
    ]
  },
  "type": "amino-acid"
}