{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826660076",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 249,
          "referenceAllele": "R",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001269555.1:p.Arg249Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018559",
          "hgvs": "NM_001282626.2:c.745C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA658795529",
          "hgvs": "NM_001282626.2:c.744_745delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29563[alleleid]",
        "alleleId": 29563,
        "preferredName": "NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515161[alleleid]",
        "alleleId": 515161,
        "preferredName": "NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14524",
        "RCV": [
          "RCV000201142",
          "RCV000814531",
          "RCV000015621",
          "RCV000057452"
        ],
        "variationId": 14524
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/543181",
        "RCV": [
          "RCV000653857"
        ],
        "variationId": 543181
      }
    ]
  },
  "type": "amino-acid"
}