{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825172543",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 322,
          "referenceAllele": "M",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_000436.2:p.Met322Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4928270",
          "hgvs": "NM_000445.4:c.966G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA372586129",
          "hgvs": "NM_000445.4:c.966G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA372586131",
          "hgvs": "NM_000445.4:c.966G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146988"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=369841[alleleid]",
        "alleleId": 369841,
        "preferredName": "NM_201384.3(PLEC):c.885G>A (p.Met295Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/386477",
        "RCV": [
          "RCV000648492",
          "RCV001704330",
          "RCV004022409"
        ],
        "variationId": 386477
      }
    ]
  },
  "type": "amino-acid"
}