{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA244001",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 2598,
          "referenceAllele": "K",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958782.1:p.Lys2598Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA243993",
          "hgvs": "NM_201380.4:c.7794G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA372525782",
          "hgvs": "NM_201380.4:c.7794G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185510"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193912[alleleid]",
        "alleleId": 193912,
        "preferredName": "NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196751",
        "RCV": [
          "RCV000724247",
          "RCV000705315",
          "RCV002516743"
        ],
        "variationId": 196751
      }
    ]
  },
  "type": "amino-acid"
}