{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830442348",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 204,
          "referenceAllele": "V",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NP_938143.1:p.Val204Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10588809",
          "hgvs": "NM_198329.4:c.610G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185035"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260384[alleleid]",
        "alleleId": 260384,
        "preferredName": "NM_024818.6(UBA5):c.778G>A (p.Val260Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265752",
        "RCV": [
          "RCV000255234"
        ],
        "variationId": 265752
      }
    ]
  },
  "type": "amino-acid"
}