{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091383",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "R",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NP_000024.2:p.Arg280Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278382",
          "hgvs": "NM_000033.4:c.838C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44308[alleleid]",
        "alleleId": 44308,
        "preferredName": "NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35643",
        "RCV": [
          "RCV000029290",
          "RCV000721083",
          "RCV001781320",
          "RCV003407363"
        ],
        "variationId": 35643
      }
    ]
  },
  "type": "amino-acid"
}