{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826800508",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 476,
          "referenceAllele": "E",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NP_001278522.1:p.Glu476Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA242083",
          "hgvs": "NM_001291593.2:c.1426G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164737"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192769[alleleid]",
        "alleleId": 192769,
        "preferredName": "NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195608",
        "RCV": [
          "RCV000261619",
          "RCV000367814",
          "RCV000723970",
          "RCV001093746",
          "RCV004537396"
        ],
        "variationId": 195608
      }
    ]
  },
  "type": "amino-acid"
}