{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8565446",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.561C>T (p.Ala187=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=466804[alleleid]",
        "alleleId": 466804,
        "preferredName": "NM_002230.4(JUP):c.561C>T (p.Ala187=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/468756",
        "RCV": [
          "RCV001697304",
          "RCV000554351",
          "RCV001124848",
          "RCV001124849",
          "RCV003317270",
          "RCV002350307"
        ],
        "variationId": 468756
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39925367-G-A",
        "id": "17-39925367-G-A",
        "variant": "17:39925367 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39925367G>A?assembly=hg19",
        "id": "chr17:g.39925367G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41769115G>A?assembly=hg38",
        "id": "chr17:g.41769115G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139552714",
        "rs": 139552714
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39925367-G-A?dataset=gnomad_r2_1",
        "id": "17-39925367-G-A",
        "variant": "17:39925367 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41769115-G-A?dataset=gnomad_r3",
        "id": "17-41769115-G-A",
        "variant": "17:41769115 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41769115-G-A?dataset=gnomad_r4",
        "id": "17-41769115-G-A",
        "variant": "17:41769115 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41769115,
          "referenceAllele": "G",
          "start": 41769114
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41769115G>A",
        "CM000679.2:g.41769115G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39925367,
          "referenceAllele": "G",
          "start": 39925366
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39925367G>A",
        "CM000679.1:g.39925367G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37178893,
          "referenceAllele": "G",
          "start": 37178892
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37178893G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22598,
          "referenceAllele": "C",
          "start": 22597
        }
      ],
      "hgvs": [
        "NG_009090.2:g.22598C>T",
        "LRG_401:g.22598C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.561C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.561C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ala187="
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ala187="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000420370.5:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411449.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000424457.5:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401034.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000437187.5:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394146.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000449889.5:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389886.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368304",
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.561C>T",
        "LRG_401t2:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991568",
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.561C>T",
        "LRG_401t1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677577",
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678445",
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679313",
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680179",
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681047",
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368304",
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991568",
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.612C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Ala204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368304",
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.561C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.561C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ala187="
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ala187="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677577",
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678445",
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679313",
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680179",
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681047",
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "referenceAllele": "C",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991568",
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ala187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}