{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA224952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 130,
          "referenceAllele": "S",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "NP_000438.2:p.Ser130Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA224951",
          "hgvs": "NM_000447.3:c.389C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146990"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23891[alleleid]",
        "alleleId": 23891,
        "preferredName": "NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8852",
        "RCV": [
          "RCV000009400",
          "RCV000009401",
          "RCV000084261",
          "RCV000172588",
          "RCV001642203",
          "RCV003934816"
        ],
        "variationId": 8852
      }
    ]
  },
  "type": "amino-acid"
}