{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829714344",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 430,
          "referenceAllele": "A",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NP_015557.2:p.Ala430Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA225525",
          "hgvs": "NM_007318.3:c.1288_1289delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33180[alleleid]",
        "alleleId": 33180,
        "preferredName": "NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18141",
        "RCV": [
          "RCV000019771",
          "RCV000084588"
        ],
        "variationId": 18141
      }
    ]
  },
  "type": "amino-acid"
}