{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091262",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "R",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_000017.1:p.Arg194Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411641054",
          "hgvs": "NM_000026.3:c.580C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1504107[alleleid]",
        "alleleId": 1504107,
        "preferredName": "NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1502335",
        "RCV": [
          "RCV002010959"
        ],
        "variationId": 1502335
      }
    ]
  },
  "type": "amino-acid"
}