{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580407922",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 85,
          "referenceAllele": "A",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016297",
      "geneNCBI_id": 51733,
      "geneSymbol": "UPB1",
      "hgvs": [
        "NP_057411.1:p.Ala85Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10153051",
          "hgvs": "NM_016327.3:c.254C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2186573[alleleid]",
        "alleleId": 2186573,
        "preferredName": "NM_016327.3(UPB1):c.254C>T (p.Ala85Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2132572",
        "RCV": [
          "RCV003056063"
        ],
        "variationId": 2132572
      }
    ]
  },
  "type": "amino-acid"
}