{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645502549",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1173,
          "referenceAllele": "R",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NP_055917.1:p.Arg1173His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA553576",
          "hgvs": "NM_015102.5:c.3518G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174279"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=283019[alleleid]",
        "alleleId": 283019,
        "preferredName": "NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/297794",
        "RCV": [
          "RCV000270302",
          "RCV002520503",
          "RCV000362620",
          "RCV000592189",
          "RCV001212595",
          "RCV002504046"
        ],
        "variationId": 297794
      }
    ]
  },
  "type": "amino-acid"
}