{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828120094",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "referenceAllele": "R",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_001350769.1:p.Arg452Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10247983",
          "hgvs": "NM_001363840.3:c.1354C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619519"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2144214[alleleid]",
        "alleleId": 2144214,
        "preferredName": "NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2086298",
        "RCV": [
          "RCV003007416"
        ],
        "variationId": 2086298
      }
    ]
  },
  "type": "amino-acid"
}