{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825207379",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 289,
          "referenceAllele": "P",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NP_000536.6:p.Pro289Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA386966635",
          "hgvs": "NM_000545.8:c.865C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1305872[alleleid]",
        "alleleId": 1305872,
        "preferredName": "NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1315612",
        "RCV": [
          "RCV001755274",
          "RCV002222073",
          "RCV002488608"
        ],
        "variationId": 1315612
      }
    ]
  },
  "type": "amino-acid"
}