{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA246013",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194876[alleleid]",
        "alleleId": 194876,
        "preferredName": "NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197715",
        "RCV": [
          "RCV000178830",
          "RCV003765100"
        ],
        "variationId": 197715
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15482369C>G?assembly=hg19",
        "id": "chr4:g.15482369C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15480745C>G?assembly=hg38",
        "id": "chr4:g.15480745C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794727713",
        "rs": 794727713
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15480745-C-G?dataset=gnomad_r4",
        "id": "4-15480745-C-G",
        "variant": "4:15480745 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 15480745,
          "referenceAllele": "C",
          "start": 15480744
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15480745C>G",
        "CM000666.2:g.15480745C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 15482369,
          "referenceAllele": "C",
          "start": 15482368
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15482369C>G",
        "CM000666.1:g.15482369C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 15091467,
          "referenceAllele": "C",
          "start": 15091466
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15091467C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15881,
          "referenceAllele": "C",
          "start": 15880
        }
      ],
      "hgvs": [
        "NG_013035.1:g.15881C>G",
        "LRG_697:g.15881C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 183,
          "referenceAllele": "C",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.165C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.165C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Ser55="
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Ser55="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000511544.6:c.*53C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426109.2:n.*53C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000512702.6:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422875.2:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "referenceAllele": "C",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000514450.3:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502062.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000515124.6:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424368.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18,
          "referenceAllele": "C",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "referenceAllele": "C",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "referenceAllele": "C",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000651385.1:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499005.1:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "referenceAllele": "C",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000652443.1:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502719.1:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000674945.1:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502333.1:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000676337.1:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501728.1:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "C",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.5:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000438599.6:c.271C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401154.2:p.Pro91Ala",
        "hgvsWellDefined": "ENSP00000401154.2:p.Pro91Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.5:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503658.2:c.271C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426846.1:p.Pro91Ala",
        "hgvsWellDefined": "ENSP00000426846.1:p.Pro91Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000507954.5:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427221.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000511544.5:c.*53C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426109.2:n.*53C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000512702.5:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422875.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000513811.5:n.345C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "referenceAllele": "C",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000514450.2:n.320C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 329,
          "referenceAllele": "C",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000515124.5:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424368.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.1:c.148C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.1:p.Pro50Ala",
        "hgvsWellDefined": "ENSP00000488669.1:p.Pro50Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825471726",
      "coordinates": [
        {
          "allele": "G",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001080522.2:c.165C>G",
        "LRG_697t1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073991.2:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826002427",
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001164720.1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158192.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA246016",
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_020785.2:c.271C>G",
        "LRG_697t2:c.271C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065836.2:p.Pro91Ala",
        "hgvsWellDefined": "NP_065836.2:p.Pro91Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_005248177.1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248234.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513869.1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512171.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513870.1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512172.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513871.1:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512173.1:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513872.1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512174.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513873.1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512175.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513874.1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512176.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513872.3:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512174.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513874.2:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512176.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_017008482.1:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863971.1:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XR_001741296.1:n.365C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826002427",
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001164720.2:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158192.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826002427",
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001164720.3:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158192.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828795402",
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.165C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Ser55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.165C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.165C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Ser55="
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Ser55="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828785801",
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.18C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Ser6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}