{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117129",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 266,
          "referenceAllele": "L",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NP_001289889.1:p.Leu266Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117126",
          "hgvs": "NM_001302960.2:c.796C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19931[alleleid]",
        "alleleId": 19931,
        "preferredName": "NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4892",
        "RCV": [
          "RCV000034106",
          "RCV000005170",
          "RCV003555922"
        ],
        "variationId": 4892
      }
    ]
  },
  "type": "amino-acid"
}