{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353980",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.902A>G (p.Glu301Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224518[alleleid]",
        "alleleId": 224518,
        "preferredName": "NM_002230.4(JUP):c.902A>G (p.Glu301Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222662",
        "RCV": [
          "RCV000208313",
          "RCV000213286",
          "RCV000996539",
          "RCV000798524"
        ],
        "variationId": 222662
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39923638-T-C",
        "id": "17-39923638-T-C",
        "variant": "17:39923638 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39923638T>C?assembly=hg19",
        "id": "chr17:g.39923638T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41767386T>C?assembly=hg38",
        "id": "chr17:g.41767386T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782058451",
        "rs": 782058451
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39923638-T-C?dataset=gnomad_r2_1",
        "id": "17-39923638-T-C",
        "variant": "17:39923638 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41767386-T-C?dataset=gnomad_r4",
        "id": "17-41767386-T-C",
        "variant": "17:41767386 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41767386,
          "referenceAllele": "T",
          "start": 41767385
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41767386T>C",
        "CM000679.2:g.41767386T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 39923638,
          "referenceAllele": "T",
          "start": 39923637
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39923638T>C",
        "CM000679.1:g.39923638T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 37177164,
          "referenceAllele": "T",
          "start": 37177163
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37177164T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24327,
          "referenceAllele": "A",
          "start": 24326
        }
      ],
      "hgvs": [
        "NG_009090.2:g.24327A>G",
        "LRG_401:g.24327A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Glu301Gly",
        "hgvsWellDefined": "ENSP00000377508.3:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.902A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.902A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Glu301Gly"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Glu301Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "referenceAllele": "A",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Glu301Gly",
        "hgvsWellDefined": "ENSP00000311113.5:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "A",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Glu301Gly",
        "hgvsWellDefined": "ENSP00000377507.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "referenceAllele": "A",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Glu301Gly",
        "hgvsWellDefined": "ENSP00000377508.3:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353983",
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "referenceAllele": "A",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.902A>G",
        "LRG_401t2:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_002221.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353984",
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "referenceAllele": "A",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.902A>G",
        "LRG_401t1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_068831.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_006721936.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_006721937.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1117,
          "referenceAllele": "A",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_006721938.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1098,
          "referenceAllele": "A",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_006721941.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1326,
          "referenceAllele": "A",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_011523055.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "A",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_011523056.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1030,
          "referenceAllele": "A",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_011523057.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 928,
          "referenceAllele": "A",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_011523058.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 924,
          "referenceAllele": "A",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_011523059.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 924,
          "referenceAllele": "A",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_011523060.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677714",
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "A",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339702.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678582",
      "coordinates": [
        {
          "allele": "G",
          "end": 1088,
          "referenceAllele": "A",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339703.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679450",
      "coordinates": [
        {
          "allele": "G",
          "end": 1110,
          "referenceAllele": "A",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339704.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680318",
      "coordinates": [
        {
          "allele": "G",
          "end": 1200,
          "referenceAllele": "A",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339705.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681186",
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339706.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353983",
      "coordinates": [
        {
          "allele": "G",
          "end": 1091,
          "referenceAllele": "A",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_002221.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353984",
      "coordinates": [
        {
          "allele": "G",
          "end": 1091,
          "referenceAllele": "A",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_068831.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_006721937.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1321,
          "referenceAllele": "A",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_011523055.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1018,
          "referenceAllele": "A",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Glu318Gly",
        "hgvsWellDefined": "XP_016880077.1:p.Glu318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 924,
          "referenceAllele": "A",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Glu301Gly",
        "hgvsWellDefined": "XP_016880079.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353983",
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_002221.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.902A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.902A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Glu301Gly"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Glu301Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677714",
      "coordinates": [
        {
          "allele": "G",
          "end": 1056,
          "referenceAllele": "A",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339702.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678582",
      "coordinates": [
        {
          "allele": "G",
          "end": 1031,
          "referenceAllele": "A",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339703.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679450",
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "A",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339704.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680318",
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339705.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681186",
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "referenceAllele": "A",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_001339706.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353984",
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Glu301Gly",
        "hgvsWellDefined": "NP_068831.1:p.Glu301Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}