{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139747782",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 41,
          "referenceAllele": "M",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "NP_695012.1:p.Met41Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412786635",
          "hgvs": "NM_153280.3:c.121A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=850071[alleleid]",
        "alleleId": 850071,
        "preferredName": "NM_003334.4(UBA1):c.121A>G (p.Met41Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836983",
        "RCV": [
          "RCV001038219",
          "RCV001265106",
          "RCV001261200",
          "RCV002255173",
          "RCV002363560",
          "RCV003411963"
        ],
        "variationId": 836983
      }
    ]
  },
  "type": "amino-acid"
}