{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828480174",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 595,
          "referenceAllele": "T",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NP_001361185.1:p.Thr595Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1826867",
          "hgvs": "NM_001374256.1:c.1784C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272766[alleleid]",
        "alleleId": 272766,
        "preferredName": "NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288529",
        "RCV": [
          "RCV000303839",
          "RCV001067121",
          "RCV004021253"
        ],
        "variationId": 288529
      }
    ]
  },
  "type": "amino-acid"
}