{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830102131",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 69,
          "referenceAllele": "D",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "NP_150600.1:p.Asp69Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10572034",
          "hgvs": "NM_033284.2:c.206A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180173"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=613772[alleleid]",
        "alleleId": 613772,
        "preferredName": "NM_033284.2(TBL1Y):c.206A>T (p.Asp69Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/625467",
        "RCV": [
          "RCV000767399"
        ],
        "variationId": 625467
      }
    ]
  },
  "type": "amino-acid"
}