{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499232045",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 447,
          "referenceAllele": "R",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NP_000382.3:p.Arg447Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379472687",
          "hgvs": "NM_000391.4:c.1340G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983741[alleleid]",
        "alleleId": 983741,
        "preferredName": "NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996030",
        "RCV": [
          "RCV001290314"
        ],
        "variationId": 996030
      }
    ]
  },
  "type": "amino-acid"
}