{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091148",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 120,
          "referenceAllele": "E",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NP_000012.1:p.Glu120Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA225009",
          "hgvs": "NM_000021.3:c.360A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390304722",
          "hgvs": "NM_000021.3:c.360A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146574"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33174[alleleid]",
        "alleleId": 33174,
        "preferredName": "NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18135",
        "RCV": [
          "RCV000019765",
          "RCV000084300"
        ],
        "variationId": 18135
      }
    ]
  },
  "type": "amino-acid"
}