{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825397130",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 46,
          "referenceAllele": "R",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033527",
      "geneNCBI_id": 723961,
      "geneSymbol": "INS-IGF2",
      "hgvs": [
        "NP_001035835.1:p.Arg46Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123086",
          "hgvs": "NM_001042376.3:c.137G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150135"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28430[alleleid]",
        "alleleId": 28430,
        "preferredName": "NM_000207.3(INS):c.137G>A (p.Arg46Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13391",
        "RCV": [
          "RCV000014323",
          "RCV001851851",
          "RCV003445068"
        ],
        "variationId": 13391
      }
    ]
  },
  "type": "amino-acid"
}