{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825207679",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "S",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NP_000536.6:p.Ser574Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214285",
          "hgvs": "NM_000545.8:c.1720A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2499221472",
          "hgvs": "NM_000545.8:c.1719_1720delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45471[alleleid]",
        "alleleId": 45471,
        "preferredName": "NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1143187[alleleid]",
        "alleleId": 1143187,
        "preferredName": "NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36810",
        "RCV": [
          "RCV000030490",
          "RCV000121200",
          "RCV001509970",
          "RCV001775070",
          "RCV002250354",
          "RCV001775069",
          "RCV001777123",
          "RCV002464079",
          "RCV002504835"
        ],
        "variationId": 36810
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1148460",
        "RCV": [
          "RCV001488317",
          "RCV002501677"
        ],
        "variationId": 1148460
      }
    ]
  },
  "type": "amino-acid"
}