{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827248935",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010382",
      "geneNCBI_id": 6185,
      "geneSymbol": "RPN2",
      "hgvs": [
        "NP_001311231.1:p.Thr73Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408840445",
          "hgvs": "NM_001324302.2:c.218C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660421"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3005948[alleleid]",
        "alleleId": 3005948,
        "preferredName": "NM_002951.5(RPN2):c.218C>T (p.Thr73Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2849993",
        "RCV": [
          "RCV003644232"
        ],
        "variationId": 2849993
      }
    ]
  },
  "type": "amino-acid"
}