{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA179900",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "E",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NP_061971.3:p.Glu755Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA179899",
          "hgvs": "NM_019098.5:c.2264A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3054206690",
          "hgvs": "NM_019098.5:c.2264_2265delinsGG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176615"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177387[alleleid]",
        "alleleId": 177387,
        "preferredName": "NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3800390[alleleid]",
        "alleleId": 3800390,
        "preferredName": "NM_019098.5(CNGB3):c.2264_2265delinsGG (p.Glu755Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166899",
        "RCV": [
          "RCV000153049",
          "RCV000367023",
          "RCV000331014",
          "RCV001522470",
          "RCV001275879"
        ],
        "variationId": 166899
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3658163",
        "RCV": [
          "RCV005137482"
        ],
        "variationId": 3658163
      }
    ]
  },
  "type": "amino-acid"
}