{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828960806",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 622,
          "referenceAllele": "D",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NP_001372182.1:p.Asp622His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA409806357",
          "hgvs": "NM_001385253.1:c.1864G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736008"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442308[alleleid]",
        "alleleId": 442308,
        "preferredName": "NM_000484.4(APP):c.2032G>C (p.Asp678His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446855",
        "RCV": [
          "RCV000516562"
        ],
        "variationId": 446855
      }
    ]
  },
  "type": "amino-acid"
}