{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828130527",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "R",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NP_001351014.1:p.Arg402Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384513943",
          "hgvs": "NM_001364085.2:c.1204C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622714"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2417869[alleleid]",
        "alleleId": 2417869,
        "preferredName": "NM_000376.3(VDR):c.1204C>T (p.Arg402Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2444136",
        "RCV": [
          "RCV003152934"
        ],
        "variationId": 2444136
      }
    ]
  },
  "type": "amino-acid"
}