{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091182",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 146,
          "referenceAllele": "M",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NP_000012.1:p.Met146Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA225022",
          "hgvs": "NM_000021.3:c.436A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341490",
          "hgvs": "NM_000021.3:c.436A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146574"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33162[alleleid]",
        "alleleId": 33162,
        "preferredName": "NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103920[alleleid]",
        "alleleId": 103920,
        "preferredName": "NM_000021.4(PSEN1):c.436A>T (p.Met146Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18123",
        "RCV": [
          "RCV000019751",
          "RCV001248367",
          "RCV003105774"
        ],
        "variationId": 18123
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98028",
        "RCV": [
          "RCV000084310",
          "RCV002247483"
        ],
        "variationId": 98028
      }
    ]
  },
  "type": "amino-acid"
}