{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825070083",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 261,
          "referenceAllele": "T",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NP_000150.1:p.Thr261Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9234487",
          "hgvs": "NM_000159.4:c.782C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146709"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=647714[alleleid]",
        "alleleId": 647714,
        "preferredName": "NM_000159.4(GCDH):c.782C>T (p.Thr261Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648642",
        "RCV": [
          "RCV000803410"
        ],
        "variationId": 648642
      }
    ]
  },
  "type": "amino-acid"
}