{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826800184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "T",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NP_001278522.1:p.Thr110Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA554344",
          "hgvs": "NM_001291593.2:c.328A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164737"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266213[alleleid]",
        "alleleId": 266213,
        "preferredName": "NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281976",
        "RCV": [
          "RCV000284712",
          "RCV001087002",
          "RCV003165723",
          "RCV004542995"
        ],
        "variationId": 281976
      }
    ]
  },
  "type": "amino-acid"
}