{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826867609",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 29,
          "referenceAllele": "A",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NP_001288766.1:p.Ala29Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA205285",
          "hgvs": "NM_001301837.2:c.86C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207992[alleleid]",
        "alleleId": 207992,
        "preferredName": "NM_138425.4(C12orf57):c.86C>T (p.Ala29Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210550",
        "RCV": [
          "RCV000192454",
          "RCV000545285",
          "RCV001788063",
          "RCV003927767"
        ],
        "variationId": 210550
      }
    ]
  },
  "type": "amino-acid"
}