{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108856",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 119,
          "referenceAllele": "F",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_000542.1:p.Phe119Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351753707",
          "hgvs": "NM_000551.4:c.355T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351753724",
          "hgvs": "NM_000551.4:c.357C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351753726",
          "hgvs": "NM_000551.4:c.357C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147086"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=486985[alleleid]",
        "alleleId": 486985,
        "preferredName": "NM_000551.4(VHL):c.355T>C (p.Phe119Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=613572[alleleid]",
        "alleleId": 613572,
        "preferredName": "NM_000551.4(VHL):c.357C>G (p.Phe119Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1795938[alleleid]",
        "alleleId": 1795938,
        "preferredName": "NM_000551.4(VHL):c.357C>A (p.Phe119Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496059",
        "RCV": [
          "RCV000588483",
          "RCV000631289",
          "RCV002456285"
        ],
        "variationId": 496059
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/625240",
        "RCV": [
          "RCV000767262",
          "RCV002458373",
          "RCV000821822"
        ],
        "variationId": 625240
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1732864",
        "RCV": [
          "RCV002455064"
        ],
        "variationId": 1732864
      }
    ]
  },
  "type": "amino-acid"
}