{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3066504567",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1289,
          "referenceAllele": "R",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024696",
      "geneNCBI_id": 25992,
      "geneSymbol": "SNED1",
      "hgvs": [
        "NP_001073906.1:p.Arg1289Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2211972",
          "hgvs": "NM_001080437.3:c.3866G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150668"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4615910[alleleid]",
        "alleleId": 4615910,
        "preferredName": "NM_001080437.3(SNED1):c.3866G>A (p.Arg1289Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4511616",
        "RCV": [
          "RCV006228940",
          "RCV006228935",
          "RCV006228936",
          "RCV006228937",
          "RCV006228938",
          "RCV006228939"
        ],
        "variationId": 4511616
      }
    ]
  },
  "type": "amino-acid"
}