{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573090049",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "referenceAllele": "R",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "NP_036618.2:p.Arg284Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345042015",
          "hgvs": "NM_012486.3:c.850A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173169"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1315231[alleleid]",
        "alleleId": 1315231,
        "preferredName": "NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2985383",
        "RCV": [
          "RCV003848510",
          "RCV003893492",
          "RCV004542297"
        ],
        "variationId": 2985383
      }
    ]
  },
  "type": "amino-acid"
}