{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117464",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 229,
          "referenceAllele": "R",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NP_055440.1:p.Arg229Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117462",
          "hgvs": "NM_014625.4:c.686G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20409[alleleid]",
        "alleleId": 20409,
        "preferredName": "NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5370",
        "RCV": [
          "RCV000005701",
          "RCV000157404",
          "RCV000590501",
          "RCV000576535",
          "RCV000855599",
          "RCV001328158",
          "RCV002293978",
          "RCV003398449",
          "RCV003362660"
        ],
        "variationId": 5370
      }
    ]
  },
  "type": "amino-acid"
}