{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA181274",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.530G>A (p.Arg177Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178216[alleleid]",
        "alleleId": 178216,
        "preferredName": "NM_002230.4(JUP):c.530G>A (p.Arg177Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178044",
        "RCV": [
          "RCV000154729",
          "RCV000621366",
          "RCV000702831",
          "RCV002243826"
        ],
        "variationId": 178044
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39925398-C-T",
        "id": "17-39925398-C-T",
        "variant": "17:39925398 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39925398C>T?assembly=hg19",
        "id": "chr17:g.39925398C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41769146C>T?assembly=hg38",
        "id": "chr17:g.41769146C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371481933",
        "rs": 371481933
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39925398-C-T?dataset=gnomad_r2_1",
        "id": "17-39925398-C-T",
        "variant": "17:39925398 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41769146-C-T?dataset=gnomad_r3",
        "id": "17-41769146-C-T",
        "variant": "17:41769146 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41769146-C-T?dataset=gnomad_r4",
        "id": "17-41769146-C-T",
        "variant": "17:41769146 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41769146,
          "referenceAllele": "C",
          "start": 41769145
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41769146C>T",
        "CM000679.2:g.41769146C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39925398,
          "referenceAllele": "C",
          "start": 39925397
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39925398C>T",
        "CM000679.1:g.39925398C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 37178924,
          "referenceAllele": "C",
          "start": 37178923
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37178924C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22567,
          "referenceAllele": "G",
          "start": 22566
        }
      ],
      "hgvs": [
        "NG_009090.2:g.22567G>A",
        "LRG_401:g.22567G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Arg177Gln",
        "hgvsWellDefined": "ENSP00000377508.3:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.530G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.530G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Arg177Gln"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Arg177Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Arg177Gln",
        "hgvsWellDefined": "ENSP00000311113.5:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Arg177Gln",
        "hgvsWellDefined": "ENSP00000377507.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Arg177Gln",
        "hgvsWellDefined": "ENSP00000377508.3:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000420370.5:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411449.1:p.Arg177Gln",
        "hgvsWellDefined": "ENSP00000411449.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000424457.5:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401034.1:p.Arg177Gln",
        "hgvsWellDefined": "ENSP00000401034.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000437187.5:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394146.1:p.Arg177Gln",
        "hgvsWellDefined": "ENSP00000394146.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000449889.5:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389886.1:p.Arg177Gln",
        "hgvsWellDefined": "ENSP00000389886.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA181277",
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.530G>A",
        "LRG_401t2:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_002221.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA181278",
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.530G>A",
        "LRG_401t1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_068831.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_006721936.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_006721937.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_006721938.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_006721941.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_011523055.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_011523056.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_011523057.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_011523058.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_011523059.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_011523060.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677559",
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "G",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339702.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678426",
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339703.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679294",
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339704.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680162",
      "coordinates": [
        {
          "allele": "A",
          "end": 828,
          "referenceAllele": "G",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339705.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681030",
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339706.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA181277",
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_002221.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA181278",
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_068831.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_006721937.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_011523055.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Arg194Gln",
        "hgvsWellDefined": "XP_016880077.1:p.Arg194Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Arg177Gln",
        "hgvsWellDefined": "XP_016880079.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA181277",
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_002221.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.530G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.530G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Arg177Gln"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Arg177Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677559",
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339702.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678426",
      "coordinates": [
        {
          "allele": "A",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339703.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679294",
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339704.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680162",
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339705.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681030",
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_001339706.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA181278",
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.530G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Arg177Gln",
        "hgvsWellDefined": "NP_068831.1:p.Arg177Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}