{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826006564",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 47,
          "referenceAllele": "P",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NP_001159395.1:p.Pro47Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214348",
          "hgvs": "NM_001165923.4:c.140C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155196"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45501[alleleid]",
        "alleleId": 45501,
        "preferredName": "NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36840",
        "RCV": [
          "RCV000030521",
          "RCV000787252",
          "RCV000730643",
          "RCV002490424"
        ],
        "variationId": 36840
      }
    ]
  },
  "type": "amino-acid"
}