{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8565510",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.375G>C (p.Ser125=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=877476[alleleid]",
        "alleleId": 877476,
        "preferredName": "NM_002230.4(JUP):c.375G>C (p.Ser125=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/888677",
        "RCV": [
          "RCV001122173",
          "RCV001122174",
          "RCV001396249",
          "RCV002348566"
        ],
        "variationId": 888677
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39925763-C-G",
        "id": "17-39925763-C-G",
        "variant": "17:39925763 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39925763C>G?assembly=hg19",
        "id": "chr17:g.39925763C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41769511C>G?assembly=hg38",
        "id": "chr17:g.41769511C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111344340",
        "rs": 111344340
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39925763-C-G?dataset=gnomad_r2_1",
        "id": "17-39925763-C-G",
        "variant": "17:39925763 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41769511-C-G?dataset=gnomad_r3",
        "id": "17-41769511-C-G",
        "variant": "17:41769511 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41769511-C-G?dataset=gnomad_r4",
        "id": "17-41769511-C-G",
        "variant": "17:41769511 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41769511,
          "referenceAllele": "C",
          "start": 41769510
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41769511C>G",
        "CM000679.2:g.41769511C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39925763,
          "referenceAllele": "C",
          "start": 39925762
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39925763C>G",
        "CM000679.1:g.39925763C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37179289,
          "referenceAllele": "C",
          "start": 37179288
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37179289C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22202,
          "referenceAllele": "G",
          "start": 22201
        }
      ],
      "hgvs": [
        "NG_009090.2:g.22202G>C",
        "LRG_401:g.22202G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.375G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.375G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ser125="
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ser125="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000420370.5:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411449.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000424457.5:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401034.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000437187.5:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394146.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "G",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000449889.5:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389886.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368207",
      "coordinates": [
        {
          "allele": "C",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.375G>C",
        "LRG_401t2:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991539",
      "coordinates": [
        {
          "allele": "C",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.375G>C",
        "LRG_401t1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "referenceAllele": "G",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677493",
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "G",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678361",
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679228",
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "referenceAllele": "G",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680096",
      "coordinates": [
        {
          "allele": "C",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680964",
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368207",
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991539",
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.426G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Ser142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368207",
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.375G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.375G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ser125="
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ser125="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677493",
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678361",
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "referenceAllele": "G",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679228",
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680096",
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680964",
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991539",
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}