{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA224986",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 84,
          "referenceAllele": "IM",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NP_000012.1:p.Ile83_Met84del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA224985",
          "hgvs": "NM_000021.3:c.247_252del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146574"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103898[alleleid]",
        "alleleId": 103898,
        "preferredName": "NM_000021.4(PSEN1):c.247_252del (p.Ile83_Met84del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98006",
        "RCV": [
          "RCV000084283"
        ],
        "variationId": 98006
      }
    ]
  },
  "type": "amino-acid"
}