{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA239388",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 765,
          "referenceAllele": "R",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NP_056199.2:p.Arg765Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239387",
          "hgvs": "NM_015384.5:c.2294G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174515"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168354[alleleid]",
        "alleleId": 168354,
        "preferredName": "NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159051",
        "RCV": [
          "RCV000146540",
          "RCV000254129",
          "RCV000513777",
          "RCV002316933"
        ],
        "variationId": 159051
      }
    ]
  },
  "type": "amino-acid"
}