{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA340952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 539,
          "referenceAllele": "M",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "NP_695012.1:p.Met539Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340951",
          "hgvs": "NM_153280.3:c.1617G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412801274",
          "hgvs": "NM_153280.3:c.1617G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412801279",
          "hgvs": "NM_153280.3:c.1617G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24819[alleleid]",
        "alleleId": 24819,
        "preferredName": "NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1491749[alleleid]",
        "alleleId": 1491749,
        "preferredName": "NM_003334.4(UBA1):c.1617G>A (p.Met539Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9780",
        "RCV": [
          "RCV000010434"
        ],
        "variationId": 9780
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1486648",
        "RCV": [
          "RCV002003755"
        ],
        "variationId": 1486648
      }
    ]
  },
  "type": "amino-acid"
}