{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830430871",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 142,
          "referenceAllele": "S",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Ser142Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA041537",
          "hgvs": "NM_198156.3:c.425C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=393224[alleleid]",
        "alleleId": 393224,
        "preferredName": "NM_000551.4(VHL):c.548C>T (p.Ser183Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411985",
        "RCV": [
          "RCV000476376",
          "RCV001007624",
          "RCV002349982",
          "RCV003237874",
          "RCV004001991"
        ],
        "variationId": 411985
      }
    ]
  },
  "type": "amino-acid"
}