{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826270901",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 612,
          "referenceAllele": "L",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NP_001191232.1:p.Leu612Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127815",
          "hgvs": "NM_001204303.2:c.1834C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158070"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33142[alleleid]",
        "alleleId": 33142,
        "preferredName": "NM_000484.4(APP):c.2113C>G (p.Leu705Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18103",
        "RCV": [
          "RCV000019731",
          "RCV000084565",
          "RCV003987327"
        ],
        "variationId": 18103
      }
    ]
  },
  "type": "amino-acid"
}