{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA241262",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "referenceAllele": "R",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_000017.1:p.Arg83Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA241261",
          "hgvs": "NM_000026.3:c.247C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192169[alleleid]",
        "alleleId": 192169,
        "preferredName": "NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195007",
        "RCV": [
          "RCV000527728",
          "RCV000723817"
        ],
        "variationId": 195007
      }
    ]
  },
  "type": "amino-acid"
}