{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828103385",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 184,
          "referenceAllele": "E",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_001350624.1:p.Glu184Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA263526",
          "hgvs": "NM_001363695.2:c.550G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619911"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70843[alleleid]",
        "alleleId": 70843,
        "preferredName": "NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56204",
        "RCV": [
          "RCV000049615",
          "RCV000731854",
          "RCV003155060",
          "RCV002345360"
        ],
        "variationId": 56204
      }
    ]
  },
  "type": "amino-acid"
}