{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828794053",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 71,
          "referenceAllele": "E",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006511",
      "geneNCBI_id": 9215,
      "geneSymbol": "LARGE1",
      "hgvs": [
        "NP_001365558.1:p.Glu71Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172466",
          "hgvs": "NM_001378629.1:c.211G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735796"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169759[alleleid]",
        "alleleId": 169759,
        "preferredName": "NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158807",
        "RCV": [
          "RCV000146258",
          "RCV000379599",
          "RCV000710160",
          "RCV000555307",
          "RCV000765632"
        ],
        "variationId": 158807
      }
    ]
  },
  "type": "amino-acid"
}