{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826888952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 295,
          "referenceAllele": "N",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NP_001291215.1:p.Asn295Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214373",
          "hgvs": "NM_001304286.2:c.884A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45517[alleleid]",
        "alleleId": 45517,
        "preferredName": "NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36856",
        "RCV": [
          "RCV000030537",
          "RCV001844804"
        ],
        "variationId": 36856
      }
    ]
  },
  "type": "amino-acid"
}