{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830390260",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 237,
          "referenceAllele": "F",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_861463.1:p.Phe237Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA027046",
          "hgvs": "NM_181798.1:c.709T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379133842",
          "hgvs": "NM_181798.1:c.711C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379133844",
          "hgvs": "NM_181798.1:c.711C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2534423[alleleid]",
        "alleleId": 2534423,
        "preferredName": "NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3411753[alleleid]",
        "alleleId": 3411753,
        "preferredName": "NM_000218.3(KCNQ1):c.1092C>G (p.Phe364Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2502213",
        "RCV": [
          "RCV003228631"
        ],
        "variationId": 2502213
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3252959",
        "RCV": [
          "RCV004590931",
          "RCV005059587"
        ],
        "variationId": 3252959
      }
    ]
  },
  "type": "amino-acid"
}