{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830430750",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 130,
          "referenceAllele": "K",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NP_937799.1:p.Lys130Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351756203",
          "hgvs": "NM_198156.3:c.390G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351756204",
          "hgvs": "NM_198156.3:c.390G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=518952[alleleid]",
        "alleleId": 518952,
        "preferredName": "NM_000551.4(VHL):c.513G>T (p.Lys171Asn)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1502539[alleleid]",
        "alleleId": 1502539,
        "preferredName": "NM_000551.4(VHL):c.513G>C (p.Lys171Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/526669",
        "RCV": [
          "RCV002343199",
          "RCV000631263",
          "RCV003459501"
        ],
        "variationId": 526669
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1392637",
        "RCV": [
          "RCV001896326",
          "RCV003303309"
        ],
        "variationId": 1392637
      }
    ]
  },
  "type": "amino-acid"
}