{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8565090",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.1912A>C (p.Asn638His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3187765",
        "active": true,
        "id": "COSM3187765"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338360[alleleid]",
        "alleleId": 338360,
        "preferredName": "NM_002230.4(JUP):c.1912A>C (p.Asn638His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/323165",
        "RCV": [
          "RCV000262154",
          "RCV000355139",
          "RCV001046526",
          "RCV001764292",
          "RCV002411219",
          "RCV002282119"
        ],
        "variationId": 323165
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39913898-T-G",
        "id": "17-39913898-T-G",
        "variant": "17:39913898 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39913898T>G?assembly=hg19",
        "id": "chr17:g.39913898T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41757646T>G?assembly=hg38",
        "id": "chr17:g.41757646T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782658008",
        "rs": 782658008
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39913898-T-G?dataset=gnomad_r2_1",
        "id": "17-39913898-T-G",
        "variant": "17:39913898 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41757646-T-G?dataset=gnomad_r3",
        "id": "17-41757646-T-G",
        "variant": "17:41757646 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41757646-T-G?dataset=gnomad_r4",
        "id": "17-41757646-T-G",
        "variant": "17:41757646 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41757646,
          "referenceAllele": "T",
          "start": 41757645
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41757646T>G",
        "CM000679.2:g.41757646T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39913898,
          "referenceAllele": "T",
          "start": 39913897
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39913898T>G",
        "CM000679.1:g.39913898T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37167424,
          "referenceAllele": "T",
          "start": 37167423
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37167424T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34067,
          "referenceAllele": "A",
          "start": 34066
        }
      ],
      "hgvs": [
        "NG_009090.2:g.34067A>C",
        "LRG_401:g.34067A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2044,
          "referenceAllele": "A",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Asn638His",
        "hgvsWellDefined": "ENSP00000377508.3:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1912A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1912A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Asn638His"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Asn638His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2031,
          "referenceAllele": "A",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Asn638His",
        "hgvsWellDefined": "ENSP00000311113.5:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "referenceAllele": "A",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Asn638His",
        "hgvsWellDefined": "ENSP00000377507.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2031,
          "referenceAllele": "A",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Asn638His",
        "hgvsWellDefined": "ENSP00000377508.3:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829369197",
      "coordinates": [
        {
          "allele": "C",
          "end": 2045,
          "referenceAllele": "A",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.1912A>C",
        "LRG_401t2:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Asn638His",
        "hgvsWellDefined": "NP_002221.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460414",
      "coordinates": [
        {
          "allele": "C",
          "end": 2045,
          "referenceAllele": "A",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.1912A>C",
        "LRG_401t1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Asn638His",
        "hgvsWellDefined": "NP_068831.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "referenceAllele": "A",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Asn638His",
        "hgvsWellDefined": "XP_006721936.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Asn638His",
        "hgvsWellDefined": "XP_006721937.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2127,
          "referenceAllele": "A",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Asn638His",
        "hgvsWellDefined": "XP_006721938.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2108,
          "referenceAllele": "A",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Asn638His",
        "hgvsWellDefined": "XP_006721941.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2336,
          "referenceAllele": "A",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Asn638His",
        "hgvsWellDefined": "XP_011523055.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2233,
          "referenceAllele": "A",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Asn638His",
        "hgvsWellDefined": "XP_011523056.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "A",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Asn638His",
        "hgvsWellDefined": "XP_011523057.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1938,
          "referenceAllele": "A",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Asn638His",
        "hgvsWellDefined": "XP_011523058.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1934,
          "referenceAllele": "A",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Asn638His",
        "hgvsWellDefined": "XP_011523059.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1934,
          "referenceAllele": "A",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Asn638His",
        "hgvsWellDefined": "XP_011523060.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678089",
      "coordinates": [
        {
          "allele": "C",
          "end": 2123,
          "referenceAllele": "A",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339702.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678958",
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "A",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339703.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679825",
      "coordinates": [
        {
          "allele": "C",
          "end": 2120,
          "referenceAllele": "A",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339704.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680694",
      "coordinates": [
        {
          "allele": "C",
          "end": 2210,
          "referenceAllele": "A",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339705.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681562",
      "coordinates": [
        {
          "allele": "C",
          "end": 2113,
          "referenceAllele": "A",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339706.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829369197",
      "coordinates": [
        {
          "allele": "C",
          "end": 2101,
          "referenceAllele": "A",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Asn638His",
        "hgvsWellDefined": "NP_002221.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460414",
      "coordinates": [
        {
          "allele": "C",
          "end": 2101,
          "referenceAllele": "A",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Asn638His",
        "hgvsWellDefined": "NP_068831.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Asn638His",
        "hgvsWellDefined": "XP_006721937.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2331,
          "referenceAllele": "A",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Asn638His",
        "hgvsWellDefined": "XP_011523055.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "A",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.1963A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Asn655His",
        "hgvsWellDefined": "XP_016880077.1:p.Asn655His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1934,
          "referenceAllele": "A",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Asn638His",
        "hgvsWellDefined": "XP_016880079.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829369197",
      "coordinates": [
        {
          "allele": "C",
          "end": 2044,
          "referenceAllele": "A",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Asn638His",
        "hgvsWellDefined": "NP_002221.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1912A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1912A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Asn638His"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Asn638His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678089",
      "coordinates": [
        {
          "allele": "C",
          "end": 2066,
          "referenceAllele": "A",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339702.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678958",
      "coordinates": [
        {
          "allele": "C",
          "end": 2041,
          "referenceAllele": "A",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339703.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679825",
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "A",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339704.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680694",
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "referenceAllele": "A",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339705.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681562",
      "coordinates": [
        {
          "allele": "C",
          "end": 1994,
          "referenceAllele": "A",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Asn638His",
        "hgvsWellDefined": "NP_001339706.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460414",
      "coordinates": [
        {
          "allele": "C",
          "end": 2044,
          "referenceAllele": "A",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.1912A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Asn638His",
        "hgvsWellDefined": "NP_068831.1:p.Asn638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}