{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3249431698",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 896,
          "referenceAllele": "K",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NP_597677.2:p.Lys896Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA359504015",
          "hgvs": "NM_133433.4:c.2686A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181029"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4732847[alleleid]",
        "alleleId": 4732847,
        "preferredName": "NM_133433.4(NIPBL):c.2686A>C (p.Lys896Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4626155",
        "RCV": [
          "RCV006365585"
        ],
        "variationId": 4626155
      }
    ]
  },
  "type": "amino-acid"
}