{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827926820",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 84,
          "referenceAllele": "V",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_001341652.1:p.Val84Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020170",
          "hgvs": "NM_001354723.2:c.250G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10578180",
          "hgvs": "NM_001354723.2:c.250G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618348"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17275[alleleid]",
        "alleleId": 17275,
        "preferredName": "NM_000551.4(VHL):c.250G>T (p.Val84Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232861[alleleid]",
        "alleleId": 232861,
        "preferredName": "NM_000551.4(VHL):c.250G>C (p.Val84Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2236",
        "RCV": [
          "RCV000002324",
          "RCV001851579",
          "RCV002433440",
          "RCV003884333"
        ],
        "variationId": 2236
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/229860",
        "RCV": [
          "RCV000216720",
          "RCV000588802",
          "RCV001382229"
        ],
        "variationId": 229860
      }
    ]
  },
  "type": "amino-acid"
}