{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827089371",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 277,
          "referenceAllele": "D",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NP_001308168.1:p.Asp277Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10588810",
          "hgvs": "NM_001321239.1:c.829G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624763"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260385[alleleid]",
        "alleleId": 260385,
        "preferredName": "NM_024818.6(UBA5):c.1165G>T (p.Asp389Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265753",
        "RCV": [
          "RCV000255798"
        ],
        "variationId": 265753
      }
    ]
  },
  "type": "amino-acid"
}