{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8565255",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.1204G>A (p.Val402Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=997546[alleleid]",
        "alleleId": 997546,
        "preferredName": "NM_002230.4(JUP):c.1204G>A (p.Val402Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/998407",
        "RCV": [
          "RCV001294260",
          "RCV002350507"
        ],
        "variationId": 998407
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39919528-C-T",
        "id": "17-39919528-C-T",
        "variant": "17:39919528 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39919528C>T?assembly=hg19",
        "id": "chr17:g.39919528C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41763276C>T?assembly=hg38",
        "id": "chr17:g.41763276C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782241125",
        "rs": 782241125
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39919528-C-T?dataset=gnomad_r2_1",
        "id": "17-39919528-C-T",
        "variant": "17:39919528 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41763276-C-T?dataset=gnomad_r3",
        "id": "17-41763276-C-T",
        "variant": "17:41763276 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41763276-C-T?dataset=gnomad_r4",
        "id": "17-41763276-C-T",
        "variant": "17:41763276 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41763276,
          "referenceAllele": "C",
          "start": 41763275
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41763276C>T",
        "CM000679.2:g.41763276C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39919528,
          "referenceAllele": "C",
          "start": 39919527
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39919528C>T",
        "CM000679.1:g.39919528C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 37173054,
          "referenceAllele": "C",
          "start": 37173053
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37173054C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28437,
          "referenceAllele": "G",
          "start": 28436
        }
      ],
      "hgvs": [
        "NG_009090.2:g.28437G>A",
        "LRG_401:g.28437G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Val402Met",
        "hgvsWellDefined": "ENSP00000377508.3:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1204G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1204G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Val402Met"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Val402Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Val402Met",
        "hgvsWellDefined": "ENSP00000311113.5:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Val402Met",
        "hgvsWellDefined": "ENSP00000377507.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Val402Met",
        "hgvsWellDefined": "ENSP00000377508.3:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368728",
      "coordinates": [
        {
          "allele": "A",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.1204G>A",
        "LRG_401t2:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Val402Met",
        "hgvsWellDefined": "NP_002221.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499288648",
      "coordinates": [
        {
          "allele": "A",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.1204G>A",
        "LRG_401t1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Val402Met",
        "hgvsWellDefined": "NP_068831.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Val402Met",
        "hgvsWellDefined": "XP_006721936.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Val402Met",
        "hgvsWellDefined": "XP_006721937.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Val402Met",
        "hgvsWellDefined": "XP_006721938.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1400,
          "referenceAllele": "G",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Val402Met",
        "hgvsWellDefined": "XP_006721941.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Val402Met",
        "hgvsWellDefined": "XP_011523055.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1525,
          "referenceAllele": "G",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Val402Met",
        "hgvsWellDefined": "XP_011523056.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Val402Met",
        "hgvsWellDefined": "XP_011523057.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Val402Met",
        "hgvsWellDefined": "XP_011523058.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Val402Met",
        "hgvsWellDefined": "XP_011523059.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Val402Met",
        "hgvsWellDefined": "XP_011523060.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677818",
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339702.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678686",
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339703.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679554",
      "coordinates": [
        {
          "allele": "A",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339704.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680422",
      "coordinates": [
        {
          "allele": "A",
          "end": 1502,
          "referenceAllele": "G",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339705.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681290",
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339706.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368728",
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "referenceAllele": "G",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Val402Met",
        "hgvsWellDefined": "NP_002221.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499288648",
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "referenceAllele": "G",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Val402Met",
        "hgvsWellDefined": "NP_068831.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Val402Met",
        "hgvsWellDefined": "XP_006721937.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1623,
          "referenceAllele": "G",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Val402Met",
        "hgvsWellDefined": "XP_011523055.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.1255G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Val419Met",
        "hgvsWellDefined": "XP_016880077.1:p.Val419Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Val402Met",
        "hgvsWellDefined": "XP_016880079.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368728",
      "coordinates": [
        {
          "allele": "A",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Val402Met",
        "hgvsWellDefined": "NP_002221.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1204G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1204G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Val402Met"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Val402Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677818",
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "referenceAllele": "G",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339702.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678686",
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "G",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339703.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679554",
      "coordinates": [
        {
          "allele": "A",
          "end": 1355,
          "referenceAllele": "G",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339704.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680422",
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339705.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681290",
      "coordinates": [
        {
          "allele": "A",
          "end": 1286,
          "referenceAllele": "G",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Val402Met",
        "hgvsWellDefined": "NP_001339706.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499288648",
      "coordinates": [
        {
          "allele": "A",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Val402Met",
        "hgvsWellDefined": "NP_068831.1:p.Val402Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}