{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA233101",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1409,
          "referenceAllele": "N",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_055861.3:p.Asn1409Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA233099",
          "hgvs": "NM_015046.7:c.4225A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174231"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165499[alleleid]",
        "alleleId": 165499,
        "preferredName": "NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/155745",
        "RCV": [
          "RCV000143816",
          "RCV000790204",
          "RCV000988270",
          "RCV001002069",
          "RCV001041860",
          "RCV002326848",
          "RCV001167322",
          "RCV004532621"
        ],
        "variationId": 155745
      }
    ]
  },
  "type": "amino-acid"
}