{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829821488",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 427,
          "referenceAllele": "A",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NP_056199.2:p.Ala427Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA359486262",
          "hgvs": "NM_015384.5:c.1279G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174515"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2394791[alleleid]",
        "alleleId": 2394791,
        "preferredName": "NM_133433.4(NIPBL):c.1279G>C (p.Ala427Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2402524",
        "RCV": [
          "RCV002764164"
        ],
        "variationId": 2402524
      }
    ]
  },
  "type": "amino-acid"
}