{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104702",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 142,
          "referenceAllele": "P",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005870",
      "geneNCBI_id": 3543,
      "geneSymbol": "IGLL1",
      "hgvs": [
        "NP_064455.1:p.Pro142Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124367",
          "hgvs": "NM_020070.4:c.425C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176712"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29864[alleleid]",
        "alleleId": 29864,
        "preferredName": "NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14825",
        "RCV": [
          "RCV000015949",
          "RCV000756272",
          "RCV001170010"
        ],
        "variationId": 14825
      }
    ]
  },
  "type": "amino-acid"
}