{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826213676",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 580,
          "referenceAllele": "T",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182728.1:p.Thr580Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10585662",
          "hgvs": "NM_001195799.2:c.1739C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=246387[alleleid]",
        "alleleId": 246387,
        "preferredName": "NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/252091",
        "RCV": [
          "RCV000237438",
          "RCV001857831"
        ],
        "variationId": 252091
      }
    ]
  },
  "type": "amino-acid"
}