{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092406",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NP_036546.2:p.Gly1052Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115207",
          "hgvs": "NM_012414.4:c.3154G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173108"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16859[alleleid]",
        "alleleId": 16859,
        "preferredName": "NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1820",
        "RCV": [
          "RCV000001894",
          "RCV001806998"
        ],
        "variationId": 1820
      }
    ]
  },
  "type": "amino-acid"
}