{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099761",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017043",
      "geneNCBI_id": 123606,
      "geneSymbol": "NIPA1",
      "hgvs": [
        "NP_653200.2:p.Gly106Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115593",
          "hgvs": "NM_144599.5:c.316G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA115595",
          "hgvs": "NM_144599.5:c.316G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181644"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17560[alleleid]",
        "alleleId": 17560,
        "preferredName": "NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17562[alleleid]",
        "alleleId": 17562,
        "preferredName": "NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2521",
        "RCV": [
          "RCV000002629"
        ],
        "variationId": 2521
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2523",
        "RCV": [
          "RCV000002631",
          "RCV000516051",
          "RCV000713477",
          "RCV001003981"
        ],
        "variationId": 2523
      }
    ]
  },
  "type": "amino-acid"
}