{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826212525",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 187,
          "referenceAllele": "E",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182728.1:p.Glu187Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA023749",
          "hgvs": "NM_001195799.2:c.559G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18730[alleleid]",
        "alleleId": 18730,
        "preferredName": "NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3691",
        "RCV": [
          "RCV000003878",
          "RCV000623885",
          "RCV000775232",
          "RCV000735406",
          "RCV000844738",
          "RCV002362556"
        ],
        "variationId": 3691
      }
    ]
  },
  "type": "amino-acid"
}