{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573197337",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 519,
          "referenceAllele": "P",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NP_001293108.2:p.Pro519Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA244536078",
          "hgvs": "NM_001306179.2:c.1555C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709964"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1386527[alleleid]",
        "alleleId": 1386527,
        "preferredName": "NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1391729",
        "RCV": [
          "RCV001882008",
          "RCV002478275",
          "RCV003317542"
        ],
        "variationId": 1391729
      }
    ]
  },
  "type": "amino-acid"
}