{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645457082",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 992,
          "referenceAllele": "E",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958785.1:p.Glu992Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4927274",
          "hgvs": "NM_201383.3:c.2974G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185513"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=370139[alleleid]",
        "alleleId": 370139,
        "preferredName": "NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/387220",
        "RCV": [
          "RCV000444396",
          "RCV000686363",
          "RCV000726447",
          "RCV003168674"
        ],
        "variationId": 387220
      }
    ]
  },
  "type": "amino-acid"
}