{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916020424",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 272,
          "referenceAllele": "R",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NP_001293108.2:p.Arg272His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124460",
          "hgvs": "NM_001306179.2:c.815G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709964"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29970[alleleid]",
        "alleleId": 29970,
        "preferredName": "NM_000545.8(HNF1A):c.815G>A (p.Arg272His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14931",
        "RCV": [
          "RCV000255916",
          "RCV000445525",
          "RCV002051786",
          "RCV002288493",
          "RCV000016068"
        ],
        "variationId": 14931
      }
    ]
  },
  "type": "amino-acid"
}