{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826949100",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NP_001300936.1:p.Gly735Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3479134",
          "hgvs": "NM_001314007.2:c.2203G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166980"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1355954[alleleid]",
        "alleleId": 1355954,
        "preferredName": "NM_005219.5(DIAPH1):c.2203G>T (p.Gly735Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1520595",
        "RCV": [
          "RCV002030844"
        ],
        "variationId": 1520595
      }
    ]
  },
  "type": "amino-acid"
}