{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA252724",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 62,
          "referenceAllele": "F",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NP_057502.2:p.Phe62Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021406",
          "hgvs": "NM_016418.5:c.185T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175211"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18336[alleleid]",
        "alleleId": 18336,
        "preferredName": "NM_000268.4(NF2):c.185T>C (p.Phe62Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3297",
        "RCV": [
          "RCV000003458"
        ],
        "variationId": 3297
      }
    ]
  },
  "type": "amino-acid"
}