{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8565250",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.1222C>T (p.Leu408Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402444[alleleid]",
        "alleleId": 402444,
        "preferredName": "NM_002230.4(JUP):c.1222C>T (p.Leu408Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409988",
        "RCV": [
          "RCV000468384",
          "RCV002365645",
          "RCV002526424"
        ],
        "variationId": 409988
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39919510-G-A",
        "id": "17-39919510-G-A",
        "variant": "17:39919510 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39919510G>A?assembly=hg19",
        "id": "chr17:g.39919510G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41763258G>A?assembly=hg38",
        "id": "chr17:g.41763258G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369755953",
        "rs": 369755953
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39919510-G-A?dataset=gnomad_r2_1",
        "id": "17-39919510-G-A",
        "variant": "17:39919510 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41763258-G-A?dataset=gnomad_r3",
        "id": "17-41763258-G-A",
        "variant": "17:41763258 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41763258-G-A?dataset=gnomad_r4",
        "id": "17-41763258-G-A",
        "variant": "17:41763258 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41763258,
          "referenceAllele": "G",
          "start": 41763257
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41763258G>A",
        "CM000679.2:g.41763258G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39919510,
          "referenceAllele": "G",
          "start": 39919509
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39919510G>A",
        "CM000679.1:g.39919510G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37173036,
          "referenceAllele": "G",
          "start": 37173035
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37173036G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28455,
          "referenceAllele": "C",
          "start": 28454
        }
      ],
      "hgvs": [
        "NG_009090.2:g.28455C>T",
        "LRG_401:g.28455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Leu408Phe",
        "hgvsWellDefined": "ENSP00000377508.3:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1222C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1222C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Leu408Phe"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Leu408Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Leu408Phe",
        "hgvsWellDefined": "ENSP00000311113.5:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Leu408Phe",
        "hgvsWellDefined": "ENSP00000377507.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Leu408Phe",
        "hgvsWellDefined": "ENSP00000377508.3:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368740",
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.1222C>T",
        "LRG_401t2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_002221.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460362",
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.1222C>T",
        "LRG_401t1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_068831.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_006721936.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_006721937.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_006721938.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_006721941.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "C",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_011523055.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_011523056.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_011523057.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_011523058.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_011523059.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_011523060.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677828",
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339702.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678696",
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339703.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679565",
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "referenceAllele": "C",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339704.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680432",
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339705.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681301",
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339706.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368740",
      "coordinates": [
        {
          "allele": "T",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_002221.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460362",
      "coordinates": [
        {
          "allele": "T",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_068831.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_006721937.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_011523055.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "C",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Leu425Phe",
        "hgvsWellDefined": "XP_016880077.1:p.Leu425Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Leu408Phe",
        "hgvsWellDefined": "XP_016880079.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368740",
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_002221.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1222C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1222C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Leu408Phe"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Leu408Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677828",
      "coordinates": [
        {
          "allele": "T",
          "end": 1376,
          "referenceAllele": "C",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339702.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678696",
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339703.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679565",
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339704.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680432",
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339705.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681301",
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_001339706.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460362",
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Leu408Phe",
        "hgvsWellDefined": "NP_068831.1:p.Leu408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}