{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827730365",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "R",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NP_001340522.1:p.Arg164Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7267070",
          "hgvs": "NM_001353593.2:c.490C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625386"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376157[alleleid]",
        "alleleId": 376157,
        "preferredName": "NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/382479",
        "RCV": [
          "RCV000423379",
          "RCV001083323",
          "RCV003959901"
        ],
        "variationId": 382479
      }
    ]
  },
  "type": "amino-acid"
}