{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826972395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 374,
          "referenceAllele": "S",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_001304852.1:p.Ser374Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115564",
          "hgvs": "NM_001317923.2:c.1120T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS644171"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17500[alleleid]",
        "alleleId": 17500,
        "preferredName": "NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2461",
        "RCV": [
          "RCV000002565"
        ],
        "variationId": 2461
      }
    ]
  },
  "type": "amino-acid"
}