{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828687086",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 384,
          "referenceAllele": "R",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007448",
      "geneNCBI_id": 4534,
      "geneSymbol": "MTM1",
      "hgvs": [
        "NP_001363836.1:p.Arg384Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA271769",
          "hgvs": "NM_001376907.1:c.1151G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170043[alleleid]",
        "alleleId": 170043,
        "preferredName": "NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158914",
        "RCV": [
          "RCV000146393",
          "RCV000428593",
          "RCV001257576"
        ],
        "variationId": 158914
      }
    ]
  },
  "type": "amino-acid"
}