{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826989972",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 574,
          "referenceAllele": "L",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NP_001305310.1:p.Leu574Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5158530",
          "hgvs": "NM_001318381.2:c.1721T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640102"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458743[alleleid]",
        "alleleId": 458743,
        "preferredName": "NM_014425.5(INVS):c.2009T>C (p.Leu670Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/462711",
        "RCV": [
          "RCV000542049",
          "RCV002483399"
        ],
        "variationId": 462711
      }
    ]
  },
  "type": "amino-acid"
}