{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825176964",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 4573,
          "referenceAllele": "V",
          "start": 4572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_000436.2:p.Val4573Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4923741",
          "hgvs": "NM_000445.4:c.13717G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146988"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=369734[alleleid]",
        "alleleId": 369734,
        "preferredName": "NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/390440",
        "RCV": [
          "RCV000422312",
          "RCV000705982",
          "RCV000725526",
          "RCV004022470"
        ],
        "variationId": 390440
      }
    ]
  },
  "type": "amino-acid"
}