{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658811084",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1328,
          "referenceAllele": "P",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NP_055917.1:p.Pro1328Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA553402",
          "hgvs": "NM_015102.5:c.3983C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174279"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490684[alleleid]",
        "alleleId": 490684,
        "preferredName": "NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499260",
        "RCV": [
          "RCV000592208",
          "RCV001088286",
          "RCV001849405",
          "RCV003151110"
        ],
        "variationId": 499260
      }
    ]
  },
  "type": "amino-acid"
}