{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826658230",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 490,
          "referenceAllele": "R",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001269553.1:p.Arg490Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017680",
          "hgvs": "NM_001282624.2:c.1468_1469delinsTC"
        },
        {
          "@id": "http://reg.genome.network/allele/CA017694",
          "hgvs": "NM_001282624.2:c.1468C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162571"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29524[alleleid]",
        "alleleId": 29524,
        "preferredName": "NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196485[alleleid]",
        "alleleId": 196485,
        "preferredName": "NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14485",
        "RCV": [
          "RCV000015574",
          "RCV000057044",
          "RCV000705473",
          "RCV001189216",
          "RCV004018634",
          "RCV003993745"
        ],
        "variationId": 14485
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200963",
        "RCV": [
          "RCV000249124",
          "RCV000725840",
          "RCV001191556",
          "RCV001300467",
          "RCV003333038",
          "RCV004528958"
        ],
        "variationId": 200963
      }
    ]
  },
  "type": "amino-acid"
}