{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825206985",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 112,
          "referenceAllele": "P",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NP_000536.6:p.Pro112Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124475",
          "hgvs": "NM_000545.8:c.335C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29981[alleleid]",
        "alleleId": 29981,
        "preferredName": "NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14942",
        "RCV": [
          "RCV000517471",
          "RCV002221999",
          "RCV000016080"
        ],
        "variationId": 14942
      }
    ]
  },
  "type": "amino-acid"
}