{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916009392",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 81,
          "referenceAllele": "P",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005154",
      "geneNCBI_id": 3248,
      "geneSymbol": "HPGD",
      "hgvs": [
        "NP_001243235.1:p.Pro81Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358812384",
          "hgvs": "NM_001256306.2:c.242C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159635"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=590273[alleleid]",
        "alleleId": 590273,
        "preferredName": "NM_000860.6(HPGD):c.446C>G (p.Pro149Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/599096",
        "RCV": [
          "RCV000735693"
        ],
        "variationId": 599096
      }
    ]
  },
  "type": "amino-acid"
}