{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112598",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 322,
          "referenceAllele": "F",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NP_000142.2:p.Phe322Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA399657329",
          "hgvs": "NM_000151.4:c.964T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399657352",
          "hgvs": "NM_000151.4:c.966C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399657354",
          "hgvs": "NM_000151.4:c.966C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146701"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2047589[alleleid]",
        "alleleId": 2047589,
        "preferredName": "NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2876357[alleleid]",
        "alleleId": 2876357,
        "preferredName": "NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1988441",
        "RCV": [
          "RCV002781305"
        ],
        "variationId": 1988441
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2716659",
        "RCV": [
          "RCV003513205"
        ],
        "variationId": 2716659
      }
    ]
  },
  "type": "amino-acid"
}