{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA244501",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3159,
          "referenceAllele": "A",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958786.1:p.Ala3159Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA244496",
          "hgvs": "NM_201384.3:c.9475G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185514"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194005[alleleid]",
        "alleleId": 194005,
        "preferredName": "NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196844",
        "RCV": [
          "RCV000712767",
          "RCV001087645",
          "RCV002516748"
        ],
        "variationId": 196844
      }
    ]
  },
  "type": "amino-acid"
}