{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829759087",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "R",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NP_055440.1:p.Arg196Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1267178",
          "hgvs": "NM_014625.4:c.586C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3393028[alleleid]",
        "alleleId": 3393028,
        "preferredName": "NM_014625.4(NPHS2):c.586C>G (p.Arg196Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3233905",
        "RCV": [
          "RCV004527185"
        ],
        "variationId": 3233905
      }
    ]
  },
  "type": "amino-acid"
}