{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830107041",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18,
          "referenceAllele": "A",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016721",
      "geneNCBI_id": 114335,
      "geneSymbol": "CGB1",
      "hgvs": [
        "NP_203695.2:p.Ala18Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9564982",
          "hgvs": "NM_033377.2:c.52G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180223"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2212116[alleleid]",
        "alleleId": 2212116,
        "preferredName": "NM_033377.2(CGB1):c.52G>A (p.Ala18Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2226109",
        "RCV": [
          "RCV004089018"
        ],
        "variationId": 2226109
      }
    ]
  },
  "type": "amino-acid"
}