{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8565332",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.950A>T (p.Gln317Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=917239[alleleid]",
        "alleleId": 917239,
        "preferredName": "NM_002230.4(JUP):c.950A>T (p.Gln317Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/928584",
        "RCV": [
          "RCV001192708",
          "RCV001876249",
          "RCV002375118",
          "RCV002473214"
        ],
        "variationId": 928584
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39921279-T-A",
        "id": "17-39921279-T-A",
        "variant": "17:39921279 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39921279T>A?assembly=hg19",
        "id": "chr17:g.39921279T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41765027T>A?assembly=hg38",
        "id": "chr17:g.41765027T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782509792",
        "rs": 782509792
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39921279-T-A?dataset=gnomad_r2_1",
        "id": "17-39921279-T-A",
        "variant": "17:39921279 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41765027-T-A?dataset=gnomad_r3",
        "id": "17-41765027-T-A",
        "variant": "17:41765027 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41765027-T-A?dataset=gnomad_r4",
        "id": "17-41765027-T-A",
        "variant": "17:41765027 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41765027,
          "referenceAllele": "T",
          "start": 41765026
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41765027T>A",
        "CM000679.2:g.41765027T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39921279,
          "referenceAllele": "T",
          "start": 39921278
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39921279T>A",
        "CM000679.1:g.39921279T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37174805,
          "referenceAllele": "T",
          "start": 37174804
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37174805T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26686,
          "referenceAllele": "A",
          "start": 26685
        }
      ],
      "hgvs": [
        "NG_009090.2:g.26686A>T",
        "LRG_401:g.26686A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "A",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Gln317Leu",
        "hgvsWellDefined": "ENSP00000377508.3:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.950A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.950A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Gln317Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Gln317Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "A",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Gln317Leu",
        "hgvsWellDefined": "ENSP00000311113.5:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "A",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Gln317Leu",
        "hgvsWellDefined": "ENSP00000377507.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "A",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Gln317Leu",
        "hgvsWellDefined": "ENSP00000377508.3:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368604",
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.950A>T",
        "LRG_401t2:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_002221.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139748786",
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.950A>T",
        "LRG_401t1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_068831.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_006721936.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "A",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_006721937.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "A",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_006721938.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "A",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_006721941.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "A",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_011523055.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "A",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_011523056.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "A",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_011523057.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "A",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_011523058.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_011523059.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_011523060.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677733",
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "A",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339702.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678601",
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "A",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339703.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679469",
      "coordinates": [
        {
          "allele": "T",
          "end": 1158,
          "referenceAllele": "A",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339704.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680338",
      "coordinates": [
        {
          "allele": "T",
          "end": 1248,
          "referenceAllele": "A",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339705.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339706.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368604",
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "A",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_002221.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139748786",
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "A",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_068831.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "A",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_006721937.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "referenceAllele": "A",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_011523055.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "A",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.1001A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Gln334Leu",
        "hgvsWellDefined": "XP_016880077.1:p.Gln334Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Gln317Leu",
        "hgvsWellDefined": "XP_016880079.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368604",
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "A",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_002221.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.950A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.950A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Gln317Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Gln317Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677733",
      "coordinates": [
        {
          "allele": "T",
          "end": 1104,
          "referenceAllele": "A",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339702.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678601",
      "coordinates": [
        {
          "allele": "T",
          "end": 1079,
          "referenceAllele": "A",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339703.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679469",
      "coordinates": [
        {
          "allele": "T",
          "end": 1101,
          "referenceAllele": "A",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339704.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680338",
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339705.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_001339706.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139748786",
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "A",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.950A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Gln317Leu",
        "hgvsWellDefined": "NP_068831.1:p.Gln317Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}