{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916000643",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 595,
          "referenceAllele": "R",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182727.1:p.Arg595Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA023581",
          "hgvs": "NM_001195798.2:c.1783C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171218[alleleid]",
        "alleleId": 171218,
        "preferredName": "NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161290",
        "RCV": [
          "RCV000237585",
          "RCV000588105",
          "RCV000518174",
          "RCV002399519",
          "RCV002051683"
        ],
        "variationId": 161290
      }
    ]
  },
  "type": "amino-acid"
}