{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827604202",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NP_001338225.1:p.Cys417Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA205176",
          "hgvs": "NM_001351296.2:c.1249T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207853[alleleid]",
        "alleleId": 207853,
        "preferredName": "NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210067",
        "RCV": [
          "RCV000192390",
          "RCV000666629",
          "RCV000763720",
          "RCV000710372",
          "RCV001272242",
          "RCV001336810",
          "RCV001102903",
          "RCV001102904",
          "RCV001449652",
          "RCV003491936",
          "RCV004530090"
        ],
        "variationId": 210067
      }
    ]
  },
  "type": "amino-acid"
}