{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096752",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 460,
          "referenceAllele": "R",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NP_004637.1:p.Arg460Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250119",
          "hgvs": "NM_004646.4:c.1379G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170341"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71077[alleleid]",
        "alleleId": 71077,
        "preferredName": "NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56438",
        "RCV": [
          "RCV000049851",
          "RCV001388275",
          "RCV001849302",
          "RCV002294008"
        ],
        "variationId": 56438
      }
    ]
  },
  "type": "amino-acid"
}