{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916019645",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 115,
          "referenceAllele": "S",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NP_001291215.1:p.Ser115Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214357",
          "hgvs": "NM_001304286.2:c.344G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45507[alleleid]",
        "alleleId": 45507,
        "preferredName": "NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36846",
        "RCV": [
          "RCV000030527",
          "RCV002464085"
        ],
        "variationId": 36846
      }
    ]
  },
  "type": "amino-acid"
}