{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA267546",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1819,
          "referenceAllele": "R",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NP_597677.2:p.Arg1819Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA267544",
          "hgvs": "NM_133433.4:c.5456G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181029"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105822[alleleid]",
        "alleleId": 105822,
        "preferredName": "NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99933",
        "RCV": [
          "RCV000086383",
          "RCV002281922"
        ],
        "variationId": 99933
      }
    ]
  },
  "type": "amino-acid"
}