{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826003593",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 58,
          "referenceAllele": "S",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000777",
      "geneNCBI_id": 463,
      "geneSymbol": "ZFHX3",
      "hgvs": [
        "NP_001158238.1:p.Ser58Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8164252",
          "hgvs": "NM_001164766.2:c.173C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155127"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=726786[alleleid]",
        "alleleId": 726786,
        "preferredName": "NM_006885.4(ZFHX3):c.2915C>T (p.Ser972Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/708551",
        "RCV": [
          "RCV000879831",
          "RCV003940390"
        ],
        "variationId": 708551
      }
    ]
  },
  "type": "amino-acid"
}