{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826076144",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 29,
          "referenceAllele": "P",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "NP_001164433.1:p.Pro29Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10518249",
          "hgvs": "NM_001170962.2:c.86C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155735"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1860271[alleleid]",
        "alleleId": 1860271,
        "preferredName": "NM_001555.5(IGSF1):c.113C>T (p.Pro38Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1803242",
        "RCV": [
          "RCV002466912",
          "RCV002571407"
        ],
        "variationId": 1803242
      }
    ]
  },
  "type": "amino-acid"
}