{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645500129",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "P",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NP_000776.1:p.Pro353Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6658233",
          "hgvs": "NM_000785.4:c.1057C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147290"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=318162[alleleid]",
        "alleleId": 318162,
        "preferredName": "NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/309997",
        "RCV": [
          "RCV000318208",
          "RCV001373348",
          "RCV002487368",
          "RCV003940184"
        ],
        "variationId": 309997
      }
    ]
  },
  "type": "amino-acid"
}