{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580544328",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "NP_777576.1:p.Cys251Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7518934",
          "hgvs": "NM_174916.3:c.752G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183606"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1704733[alleleid]",
        "alleleId": 1704733,
        "preferredName": "NM_174916.3(UBR1):c.752G>T (p.Cys251Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1706419",
        "RCV": [
          "RCV002284949"
        ],
        "variationId": 1706419
      }
    ]
  },
  "type": "amino-acid"
}