{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA237205",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189967[alleleid]",
        "alleleId": 189967,
        "preferredName": "NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191670",
        "RCV": [
          "RCV000171957",
          "RCV000765351",
          "RCV002408745"
        ],
        "variationId": 191670
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39913948-A-G",
        "id": "17-39913948-A-G",
        "variant": "17:39913948 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39913948A>G?assembly=hg19",
        "id": "chr17:g.39913948A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41757696A>G?assembly=hg38",
        "id": "chr17:g.41757696A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752594411",
        "rs": 752594411
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39913948-A-G?dataset=gnomad_r2_1",
        "id": "17-39913948-A-G",
        "variant": "17:39913948 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41757696-A-G?dataset=gnomad_r3",
        "id": "17-41757696-A-G",
        "variant": "17:41757696 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41757696-A-G?dataset=gnomad_r4",
        "id": "17-41757696-A-G",
        "variant": "17:41757696 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41757696,
          "referenceAllele": "A",
          "start": 41757695
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41757696A>G",
        "CM000679.2:g.41757696A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39913948,
          "referenceAllele": "A",
          "start": 39913947
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39913948A>G",
        "CM000679.1:g.39913948A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37167474,
          "referenceAllele": "A",
          "start": 37167473
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37167474A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34017,
          "referenceAllele": "T",
          "start": 34016
        }
      ],
      "hgvs": [
        "NG_009090.2:g.34017T>C",
        "LRG_401:g.34017T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1994,
          "referenceAllele": "T",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ile621Thr",
        "hgvsWellDefined": "ENSP00000377508.3:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1862T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1862T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ile621Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ile621Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1981,
          "referenceAllele": "T",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Ile621Thr",
        "hgvsWellDefined": "ENSP00000311113.5:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2079,
          "referenceAllele": "T",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Ile621Thr",
        "hgvsWellDefined": "ENSP00000377507.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1981,
          "referenceAllele": "T",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ile621Thr",
        "hgvsWellDefined": "ENSP00000377508.3:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA237208",
      "coordinates": [
        {
          "allele": "C",
          "end": 1995,
          "referenceAllele": "T",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.1862T>C",
        "LRG_401t2:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_002221.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA237209",
      "coordinates": [
        {
          "allele": "C",
          "end": 1995,
          "referenceAllele": "T",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.1862T>C",
        "LRG_401t1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_068831.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "T",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_006721936.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2008,
          "referenceAllele": "T",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_006721937.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2077,
          "referenceAllele": "T",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_006721938.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "T",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_006721941.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "referenceAllele": "T",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_011523055.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2183,
          "referenceAllele": "T",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_011523056.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1990,
          "referenceAllele": "T",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_011523057.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1888,
          "referenceAllele": "T",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_011523058.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1884,
          "referenceAllele": "T",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_011523059.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1884,
          "referenceAllele": "T",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_011523060.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678063",
      "coordinates": [
        {
          "allele": "C",
          "end": 2073,
          "referenceAllele": "T",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339702.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678931",
      "coordinates": [
        {
          "allele": "C",
          "end": 2048,
          "referenceAllele": "T",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339703.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679800",
      "coordinates": [
        {
          "allele": "C",
          "end": 2070,
          "referenceAllele": "T",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339704.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680667",
      "coordinates": [
        {
          "allele": "C",
          "end": 2160,
          "referenceAllele": "T",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339705.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681535",
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "T",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339706.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA237208",
      "coordinates": [
        {
          "allele": "C",
          "end": 2051,
          "referenceAllele": "T",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_002221.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA237209",
      "coordinates": [
        {
          "allele": "C",
          "end": 2051,
          "referenceAllele": "T",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_068831.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2008,
          "referenceAllele": "T",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_006721937.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2281,
          "referenceAllele": "T",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_011523055.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "T",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.1913T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Ile638Thr",
        "hgvsWellDefined": "XP_016880077.1:p.Ile638Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1884,
          "referenceAllele": "T",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Ile621Thr",
        "hgvsWellDefined": "XP_016880079.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA237208",
      "coordinates": [
        {
          "allele": "C",
          "end": 1994,
          "referenceAllele": "T",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_002221.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1862T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1862T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ile621Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ile621Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678063",
      "coordinates": [
        {
          "allele": "C",
          "end": 2016,
          "referenceAllele": "T",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339702.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678931",
      "coordinates": [
        {
          "allele": "C",
          "end": 1991,
          "referenceAllele": "T",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339703.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679800",
      "coordinates": [
        {
          "allele": "C",
          "end": 2013,
          "referenceAllele": "T",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339704.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680667",
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "T",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339705.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681535",
      "coordinates": [
        {
          "allele": "C",
          "end": 1944,
          "referenceAllele": "T",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_001339706.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA237209",
      "coordinates": [
        {
          "allele": "C",
          "end": 1994,
          "referenceAllele": "T",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.1862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ile621Thr",
        "hgvsWellDefined": "NP_068831.1:p.Ile621Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}