{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829455168",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1190,
          "referenceAllele": "E",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NP_003564.2:p.Glu1190Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9449012",
          "hgvs": "NM_003573.2:c.3568G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169348"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=446136[alleleid]",
        "alleleId": 446136,
        "preferredName": "NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/451742",
        "RCV": [
          "RCV000521221",
          "RCV001333138"
        ],
        "variationId": 451742
      }
    ]
  },
  "type": "amino-acid"
}