{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA305600",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 127,
          "referenceAllele": "V",
          "start": 126
        }
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      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_861463.1:p.Val127Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008134",
          "hgvs": "NM_181798.1:c.379G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA008142",
          "hgvs": "NM_181798.1:c.379G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67764[alleleid]",
        "alleleId": 67764,
        "preferredName": "NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78000[alleleid]",
        "alleleId": 78000,
        "preferredName": "NM_000218.3(KCNQ1):c.760G>C (p.Val254Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53096",
        "RCV": [
          "RCV000057751",
          "RCV000620025"
        ],
        "variationId": 53096
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67104",
        "RCV": [
          "RCV000057750"
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        "variationId": 67104
      }
    ]
  },
  "type": "amino-acid"
}