{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916057072",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 52,
          "referenceAllele": "E",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Glu52Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020056",
          "hgvs": "NM_198156.3:c.154G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171078[alleleid]",
        "alleleId": 171078,
        "preferredName": "NM_000551.4(VHL):c.154G>A (p.Glu52Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161402",
        "RCV": [
          "RCV000148923",
          "RCV000575111",
          "RCV000227809",
          "RCV001704076",
          "RCV001843484",
          "RCV002465537",
          "RCV002467589",
          "RCV003415985"
        ],
        "variationId": 161402
      }
    ]
  },
  "type": "amino-acid"
}