{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094572",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 311,
          "referenceAllele": "F",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_000492.4:c.933C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368978315",
          "hgvs": "NM_000492.4:c.931T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368978326",
          "hgvs": "NM_000492.4:c.933C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22192[alleleid]",
        "alleleId": 22192,
        "preferredName": "NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1504040[alleleid]",
        "alleleId": 1504040,
        "preferredName": "NM_000492.4(CFTR):c.931T>C (p.Phe311Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3031620[alleleid]",
        "alleleId": 3031620,
        "preferredName": "NM_000492.4(CFTR):c.933C>A (p.Phe311Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7153",
        "RCV": [
          "RCV000007573",
          "RCV001642201",
          "RCV003473025"
        ],
        "variationId": 7153
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1474955",
        "RCV": [
          "RCV002007760"
        ],
        "variationId": 1474955
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2871602",
        "RCV": [
          "RCV003617661"
        ],
        "variationId": 2871602
      }
    ]
  },
  "type": "amino-acid"
}