{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645487487",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1324,
          "referenceAllele": "F",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "NP_694972.3:p.Phe1324Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2621594",
          "hgvs": "NM_153240.5:c.3971T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182815"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=250928[alleleid]",
        "alleleId": 250928,
        "preferredName": "NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/262714",
        "RCV": [
          "RCV000248210",
          "RCV000542228",
          "RCV001722363",
          "RCV002294209"
        ],
        "variationId": 262714
      }
    ]
  },
  "type": "amino-acid"
}