{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828696549",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 45,
          "referenceAllele": "L",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020580",
      "geneNCBI_id": 120227,
      "geneSymbol": "CYP2R1",
      "hgvs": [
        "NP_001364146.1:p.Leu45Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115362",
          "hgvs": "NM_001377217.1:c.134T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709890"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17173[alleleid]",
        "alleleId": 17173,
        "preferredName": "NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2134",
        "RCV": [
          "RCV000002216",
          "RCV001195424",
          "RCV001371299"
        ],
        "variationId": 2134
      }
    ]
  },
  "type": "amino-acid"
}