{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916067971",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 474,
          "referenceAllele": "V",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006511",
      "geneNCBI_id": 9215,
      "geneSymbol": "LARGE1",
      "hgvs": [
        "NP_598397.1:p.Val474Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA206175",
          "hgvs": "NM_133642.5:c.1420G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181093"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101064[alleleid]",
        "alleleId": 101064,
        "preferredName": "NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95164",
        "RCV": [
          "RCV000192984",
          "RCV000540677",
          "RCV000764383",
          "RCV000710157",
          "RCV001148299",
          "RCV003925066"
        ],
        "variationId": 95164
      }
    ]
  },
  "type": "amino-acid"
}