{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830487737",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4218,
          "referenceAllele": "A",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958781.1:p.Ala4218Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4924000",
          "hgvs": "NM_201379.3:c.12652G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185509"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268004[alleleid]",
        "alleleId": 268004,
        "preferredName": "NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283767",
        "RCV": [
          "RCV000648536",
          "RCV000725329"
        ],
        "variationId": 283767
      }
    ]
  },
  "type": "amino-acid"
}