{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741965627",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "R",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "NP_060599.1:p.Arg138Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA400058173",
          "hgvs": "NM_018129.4:c.412C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176004"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3048597[alleleid]",
        "alleleId": 3048597,
        "preferredName": "NM_018129.4(PNPO):c.412C>T (p.Arg138Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2892339",
        "RCV": [
          "RCV003617214"
        ],
        "variationId": 2892339
      }
    ]
  },
  "type": "amino-acid"
}