{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826381111",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 19,
          "referenceAllele": "A",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005154",
      "geneNCBI_id": 3248,
      "geneSymbol": "HPGD",
      "hgvs": [
        "NP_001243230.1:p.Ala19Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119153",
          "hgvs": "NM_001256301.1:c.55G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22956[alleleid]",
        "alleleId": 22956,
        "preferredName": "NM_000860.6(HPGD):c.418G>C (p.Ala140Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7917",
        "RCV": [
          "RCV000008379",
          "RCV000144084",
          "RCV001781205"
        ],
        "variationId": 7917
      }
    ]
  },
  "type": "amino-acid"
}