{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827584037",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "P",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "NP_001337973.1:p.Pro510Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA378227926",
          "hgvs": "NM_001351044.2:c.1528C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS646496"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535665[alleleid]",
        "alleleId": 535665,
        "preferredName": "NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545401",
        "RCV": [
          "RCV000656351"
        ],
        "variationId": 545401
      }
    ]
  },
  "type": "amino-acid"
}