{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139668496",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 491,
          "referenceAllele": "F",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NP_000159.3:p.Phe491Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA4230836",
          "hgvs": "NM_000168.6:c.1471T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA367323790",
          "hgvs": "NM_000168.6:c.1473C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA367323792",
          "hgvs": "NM_000168.6:c.1473C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146718"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=821945[alleleid]",
        "alleleId": 821945,
        "preferredName": "NM_000168.6(GLI3):c.1473C>G (p.Phe491Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2143244[alleleid]",
        "alleleId": 2143244,
        "preferredName": "NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/833807",
        "RCV": [
          "RCV001034315"
        ],
        "variationId": 833807
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2082732",
        "RCV": [
          "RCV002999362"
        ],
        "variationId": 2082732
      }
    ]
  },
  "type": "amino-acid"
}