{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139685668",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 324,
          "referenceAllele": "R",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NP_001017536.1:p.Arg324His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384516583",
          "hgvs": "NM_001017536.2:c.971G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149078"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=903592[alleleid]",
        "alleleId": 903592,
        "preferredName": "NM_000376.3(VDR):c.821G>A (p.Arg274His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/915348",
        "RCV": [
          "RCV001169944",
          "RCV001843570"
        ],
        "variationId": 915348
      }
    ]
  },
  "type": "amino-acid"
}