{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825153276",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 788,
          "referenceAllele": "F",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NP_000379.3:p.Phe788Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119509",
          "hgvs": "NM_000388.4:c.2363T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710469"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23375[alleleid]",
        "alleleId": 23375,
        "preferredName": "NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8336",
        "RCV": [
          "RCV000008838",
          "RCV001851748",
          "RCV004018595"
        ],
        "variationId": 8336
      }
    ]
  },
  "type": "amino-acid"
}