{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116813",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12,
          "referenceAllele": "I",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016512",
      "geneNCBI_id": 7809,
      "geneSymbol": "BSND",
      "hgvs": [
        "NP_476517.1:p.Ile12Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116812",
          "hgvs": "NM_057176.3:c.35T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19427[alleleid]",
        "alleleId": 19427,
        "preferredName": "NM_057176.3(BSND):c.35T>C (p.Ile12Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4388",
        "RCV": [
          "RCV000004638",
          "RCV000785598",
          "RCV001214565",
          "RCV002281695",
          "RCV001291206"
        ],
        "variationId": 4388
      }
    ]
  },
  "type": "amino-acid"
}