{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830528980",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 676,
          "referenceAllele": "E",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NP_997064.2:p.Glu676Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA336743",
          "hgvs": "NM_207181.4:c.2026G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185924"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212119[alleleid]",
        "alleleId": 212119,
        "preferredName": "NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216416",
        "RCV": [
          "RCV000196832",
          "RCV000730183",
          "RCV001128696",
          "RCV001135698",
          "RCV001128695",
          "RCV002282034",
          "RCV002517295",
          "RCV002478707"
        ],
        "variationId": 216416
      }
    ]
  },
  "type": "amino-acid"
}