{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826214748",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "referenceAllele": "Y",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182729.1:p.Tyr207Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10585318",
          "hgvs": "NM_001195800.2:c.620A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157139"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=246002[alleleid]",
        "alleleId": 246002,
        "preferredName": "NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/251679",
        "RCV": [
          "RCV000237921",
          "RCV001063149",
          "RCV002436076",
          "RCV003391007"
        ],
        "variationId": 251679
      }
    ]
  },
  "type": "amino-acid"
}