{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830486570",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3049,
          "referenceAllele": "A",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958781.1:p.Ala3049Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4925036",
          "hgvs": "NM_201379.3:c.9145G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185509"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=502247[alleleid]",
        "alleleId": 502247,
        "preferredName": "NM_201384.3(PLEC):c.9211G>A (p.Ala3071Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/514824",
        "RCV": [
          "RCV000614142",
          "RCV001855237"
        ],
        "variationId": 514824
      }
    ]
  },
  "type": "amino-acid"
}