{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828788160",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1420,
          "referenceAllele": "S",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365546.1:p.Ser1420Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA150882",
          "hgvs": "NM_001378617.1:c.4260C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA92534312",
          "hgvs": "NM_001378617.1:c.4260C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356431628",
          "hgvs": "NM_001378617.1:c.4258A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737961"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=131777[alleleid]",
        "alleleId": 131777,
        "preferredName": "NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3721348[alleleid]",
        "alleleId": 3721348,
        "preferredName": "NM_001378615.1(CC2D2A):c.4407C>A (p.Ser1469Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126245",
        "RCV": [
          "RCV000114181",
          "RCV001854529"
        ],
        "variationId": 126245
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3590409",
        "RCV": [
          "RCV005039030"
        ],
        "variationId": 3590409
      }
    ]
  },
  "type": "amino-acid"
}