{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057549851",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 135,
          "referenceAllele": "M",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NP_015557.2:p.Met135Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA390304935",
          "hgvs": "NM_007318.3:c.404T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3870288[alleleid]",
        "alleleId": 3870288,
        "preferredName": "NM_000021.4(PSEN1):c.416T>A (p.Met139Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3759252",
        "RCV": [
          "RCV005221339",
          "RCV005241143"
        ],
        "variationId": 3759252
      }
    ]
  },
  "type": "amino-acid"
}