{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110468",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012874",
      "geneNCBI_id": 7547,
      "geneSymbol": "ZIC3",
      "hgvs": [
        "NP_003404.1:p.Cys253Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281607",
          "hgvs": "NM_003413.4:c.758G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA336368855",
          "hgvs": "NM_003413.4:c.757T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169200"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26476[alleleid]",
        "alleleId": 26476,
        "preferredName": "NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536055[alleleid]",
        "alleleId": 536055,
        "preferredName": "NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11437",
        "RCV": [
          "RCV000012190"
        ],
        "variationId": 11437
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545553",
        "RCV": [
          "RCV000754888"
        ],
        "variationId": 545553
      }
    ]
  },
  "type": "amino-acid"
}