{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA232787",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 578,
          "referenceAllele": "F",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NP_998764.1:p.Phe578Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA232785",
          "hgvs": "NM_213599.3:c.1733T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186105"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150231[alleleid]",
        "alleleId": 150231,
        "preferredName": "NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/140553",
        "RCV": [
          "RCV000128774",
          "RCV000405473",
          "RCV001814063",
          "RCV002288618",
          "RCV002464119",
          "RCV002498636"
        ],
        "variationId": 140553
      }
    ]
  },
  "type": "amino-acid"
}