{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826800509",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 478,
          "referenceAllele": "F",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NP_001278522.1:p.Phe478Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116187",
          "hgvs": "NM_001291593.2:c.1433T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164737"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18441[alleleid]",
        "alleleId": 18441,
        "preferredName": "NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3402",
        "RCV": [
          "RCV000003571"
        ],
        "variationId": 3402
      }
    ]
  },
  "type": "amino-acid"
}