{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826532832",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 239,
          "referenceAllele": "V",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NP_001258029.1:p.Val239Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA372489490",
          "hgvs": "NM_001271100.2:c.716T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160959"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3225109[alleleid]",
        "alleleId": 3225109,
        "preferredName": "NM_078480.3(PUF60):c.896T>A (p.Val299Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064988",
        "RCV": [
          "RCV003990065",
          "RCV003992826"
        ],
        "variationId": 3064988
      }
    ]
  },
  "type": "amino-acid"
}