{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573253638",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 642,
          "referenceAllele": "I",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024035",
      "geneNCBI_id": 26060,
      "geneSymbol": "APPL1",
      "hgvs": [
        "NP_036228.1:p.Ile642Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2463989",
          "hgvs": "NM_012096.3:c.1926A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172838"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1670335[alleleid]",
        "alleleId": 1670335,
        "preferredName": "NM_012096.3(APPL1):c.1926A>G (p.Ile642Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1678586",
        "RCV": [
          "RCV002225187",
          "RCV003101285"
        ],
        "variationId": 1678586
      }
    ]
  },
  "type": "amino-acid"
}