{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA201482",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "NP_112224.1:p.Gly775Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA201480",
          "hgvs": "NM_030962.4:c.2323G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179042"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192151[alleleid]",
        "alleleId": 192151,
        "preferredName": "NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194989",
        "RCV": [
          "RCV000175483",
          "RCV000438792",
          "RCV000206768",
          "RCV001094125",
          "RCV001173128",
          "RCV001293356",
          "RCV003937583",
          "RCV002444702"
        ],
        "variationId": 194989
      }
    ]
  },
  "type": "amino-acid"
}