{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830348603",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000320",
      "geneNCBI_id": 177,
      "geneSymbol": "AGER",
      "hgvs": [
        "NP_751947.1:p.Gly238Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3738082",
          "hgvs": "NM_172197.3:c.712G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183196"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2211948[alleleid]",
        "alleleId": 2211948,
        "preferredName": "NM_001136.5(AGER):c.754G>A (p.Gly252Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2225941",
        "RCV": [
          "RCV004087075"
        ],
        "variationId": 2225941
      }
    ]
  },
  "type": "amino-acid"
}