{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829603254",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "D",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_005563.1:p.Asp230Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA054093",
          "hgvs": "NM_005572.4:c.689A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171197"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1669308[alleleid]",
        "alleleId": 1669308,
        "preferredName": "NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1677618",
        "RCV": [
          "RCV002224360",
          "RCV002487019",
          "RCV003089170"
        ],
        "variationId": 1677618
      }
    ]
  },
  "type": "amino-acid"
}