{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139749407",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 177,
          "referenceAllele": "T",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016075",
      "geneNCBI_id": 83452,
      "geneSymbol": "RAB33B",
      "hgvs": [
        "NP_112586.1:p.Thr177Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3084027",
          "hgvs": "NM_031296.3:c.530C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179112"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=890117[alleleid]",
        "alleleId": 890117,
        "preferredName": "NM_031296.3(RAB33B):c.530C>T (p.Thr177Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/901955",
        "RCV": [
          "RCV001148162",
          "RCV001573007",
          "RCV003938511"
        ],
        "variationId": 901955
      }
    ]
  },
  "type": "amino-acid"
}