{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA277936",
  "communityStandardTitle": [
    "NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19585[alleleid]",
        "alleleId": 19585,
        "preferredName": "NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4546",
        "RCV": [
          "RCV000004805",
          "RCV000196081",
          "RCV003311649"
        ],
        "variationId": 4546
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-62460143-C-A",
        "id": "11-62460143-C-A",
        "variant": "11:62460143 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.62460143C>A?assembly=hg19",
        "id": "chr11:g.62460143C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.62692671C>A?assembly=hg38",
        "id": "chr11:g.62692671C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852975",
        "rs": 137852975
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-62460143-C-A?dataset=gnomad_r2_1",
        "id": "11-62460143-C-A",
        "variant": "11:62460143 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-62692671-C-A?dataset=gnomad_r3",
        "id": "11-62692671-C-A",
        "variant": "11:62692671 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-62692671-C-A?dataset=gnomad_r4",
        "id": "11-62692671-C-A",
        "variant": "11:62692671 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 62692671,
          "referenceAllele": "C",
          "start": 62692670
        }
      ],
      "hgvs": [
        "NC_000011.10:g.62692671C>A",
        "CM000673.2:g.62692671C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 62460143,
          "referenceAllele": "C",
          "start": 62460142
        }
      ],
      "hgvs": [
        "NC_000011.9:g.62460143C>A",
        "CM000673.1:g.62460143C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 62216719,
          "referenceAllele": "C",
          "start": 62216718
        }
      ],
      "hgvs": [
        "NC_000011.8:g.62216719C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21904,
          "referenceAllele": "G",
          "start": 21903
        }
      ],
      "hgvs": [
        "NG_008461.1:g.21904G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2229,
          "referenceAllele": "G",
          "start": 2228
        }
      ],
      "hgvs": [
        "NG_033077.1:g.2229G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005409"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000412351.2:n.949G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000449636.6:c.265G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405265.2:p.Glu89Ter",
        "hgvsWellDefined": "ENSP00000405265.2:p.Glu89_Ser298delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000524862.6:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433888.2:p.Glu253Ter",
        "hgvsWellDefined": "ENSP00000433888.2:p.Glu253_Ser462delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 197,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000682003.1:n.809-198G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000682223.1:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508140.1:p.Glu253Ter",
        "hgvsWellDefined": "ENSP00000508140.1:p.Glu253_Cys418delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluValGlnAlaProGlyLysMetGlnLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "endIntronDirection": "-",
          "endIntronOffset": 1249,
          "referenceAllele": "G",
          "start": 1022,
          "startIntronDirection": "-",
          "startIntronOffset": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000682262.1:c.631-1250G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507103.1:n.631-1250G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000682555.1:c.675G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507814.1:p.Glu225Asp",
        "hgvsWellDefined": "ENSP00000507814.1:p.Glu225Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000682644.1:n.1149G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000682794.1:n.1067G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000683025.1:c.*404G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507028.1:n.*404G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000683296.1:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507725.1:p.Glu253Ter",
        "hgvsWellDefined": "ENSP00000507725.1:p.Glu253_Ser465delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspValSerGlySerAspProCysIleProLeuLeuAlaAlaGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000683368.1:n.948G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000683494.1:n.1149G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000683846.1:n.1097G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000683892.1:n.1259G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000684067.1:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506799.1:p.Glu253Ter",
        "hgvsWellDefined": "ENSP00000506799.1:p.Glu253_Ser448delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProValSerGlySerAspProCysIleProLeuLeuAlaAlaGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000684115.1:n.1149G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000684258.1:n.1185G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000684285.1:c.*264G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507669.1:n.*264G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "endIntronDirection": "-",
          "endIntronOffset": 197,
          "referenceAllele": "G",
          "start": 1022,
          "startIntronDirection": "-",
          "startIntronOffset": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000684475.1:c.631-198G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507429.1:n.631-198G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000684609.1:n.1149G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000684720.1:n.1149G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000360796.10:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354032.5:p.Glu253Ter",
        "hgvsWellDefined": "ENSP00000354032.5:p.Glu253_Ser462delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360796.10:c.757G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001122955.4:c.757G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354032.5:p.Glu253Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001116427.1:p.Glu253Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000679883.1:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505838.1:p.Glu253Ter",
        "hgvsWellDefined": "ENSP00000505838.1:p.Glu253_Ser462delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000278893.11:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278893.7:p.Glu189Ter",
        "hgvsWellDefined": "ENSP00000278893.7:p.Glu189_Pro287delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgLeuThrSerGluLysGluThrIleProGlyArgLysSerAsnGluGlySerLeuLeuIleSerGlnGlyLeuLysAlaArgArgSerGlnLeuArgAsnGlnMetLeuGlnArgMetValArgAlaLeuLysIleProGlnGlyGlnArgValSerCysProArgArgArgAsnGlnIleSerSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000301781.10:c.702G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301781.5:p.Glu234Asp",
        "hgvsWellDefined": "ENSP00000301781.5:p.Glu234Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "G",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000360796.9:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354032.5:p.Glu253Ter",
        "hgvsWellDefined": "ENSP00000354032.5:p.Glu253_Ser462delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "referenceAllele": "G",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000403098.6:c.79G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384258.2:p.Glu27Ter",
        "hgvsWellDefined": "ENSP00000384258.2:p.Glu27_Ser79delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuSerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000403550.5:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385561.1:p.Glu189Ter",
        "hgvsWellDefined": "ENSP00000385561.1:p.Glu189_Ser398delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "G",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049189",
      "geneNCBI_id": 100534595,
      "geneSymbol": "HNRNPUL2-BSCL2",
      "hgvs": [
        "ENST00000403734.2:c.*808G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456010.1:n.*808G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000405837.5:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385332.1:p.Glu253Ter",
        "hgvsWellDefined": "ENSP00000385332.1:p.Glu253_Ser464delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyAlaGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000407022.7:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384080.3:p.Glu189Ter",
        "hgvsWellDefined": "ENSP00000384080.3:p.Glu189_Ser398delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000412351.1:n.355G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000421906.5:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413209.1:p.Glu189Ter",
        "hgvsWellDefined": "ENSP00000413209.1:p.Glu189_Ser398delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000448568.6:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413340.2:p.Glu189Ter",
        "hgvsWellDefined": "ENSP00000413340.2:p.Glu189Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000468505.5:n.127G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000526426.1:n.272G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 144,
          "endIntronDirection": "-",
          "endIntronOffset": 197,
          "referenceAllele": "G",
          "start": 144,
          "startIntronDirection": "-",
          "startIntronOffset": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "ENST00000532115.5:n.145-198G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277939",
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NM_001122955.3:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116427.1:p.Glu253Ter",
        "hgvsWellDefined": "NP_001116427.1:p.Glu253_Ser462delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277937",
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NM_001130702.2:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124174.2:p.Glu189Ter",
        "hgvsWellDefined": "NP_001124174.2:p.Glu189_Pro287delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgLeuThrSerGluLysGluThrIleProGlyArgLysSerAsnGluGlySerLeuLeuIleSerGlnGlyLeuLysAlaArgArgSerGlnLeuArgAsnGlnMetLeuGlnArgMetValArgAlaLeuLysIleProGlnGlyGlnArgValSerCysProArgArgArgAsnGlnIleSerSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277938",
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NM_032667.6:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116056.3:p.Glu189Ter",
        "hgvsWellDefined": "NP_116056.3:p.Glu189_Ser398delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "G",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049189",
      "geneNCBI_id": 100534595,
      "geneSymbol": "HNRNPUL2-BSCL2",
      "hgvs": [
        "NR_037946.1:n.3277G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NR_037948.1:n.1359G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NR_037949.1:n.1359G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277939",
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NM_001122955.4:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116427.1:p.Glu253Ter",
        "hgvsWellDefined": "NP_001116427.1:p.Glu253_Ser462delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712151",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360796.10:c.757G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001122955.4:c.757G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354032.5:p.Glu253Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001116427.1:p.Glu253Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829061480",
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NM_001386027.1:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372956.1:p.Glu253Ter",
        "hgvsWellDefined": "NP_001372956.1:p.Glu253_Ser464delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyAlaGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573078569",
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NM_001386028.1:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372957.1:p.Glu253Ter",
        "hgvsWellDefined": "NP_001372957.1:p.Glu253_Ser462delinsAsnSerTyrValProThrThrGlyAlaIleIleGluIleHisSerLysArgIleGlnLeuTyrGlyAlaTyrLeuArgIleHisAlaHisPheThrGlyLeuArgTyrLeuLeuTyrAsnPheProMetThrCysAlaPheIleGlyValAlaSerAsnPheThrPheLeuSerValIleValLeuPheSerTyrMetGlnTrpValTrpGlyGlyIleTrpProArgHisArgPheSerLeuGlnValAsnIleArgLysArgAspAsnSerArgLysGluValGlnArgArgIleSerAlaHisGlnProGlyProGluGlyGlnGluGluSerThrProGlnSerAspValThrGluAspGlyGluSerProGluAspProSerGlyThrGluGlyGlnLeuSerGluGluGluLysProAspGlnGlnProLeuSerGlyGluGluGluLeuGluProGluAlaSerAspGlySerGlySerTrpGluAspAlaAlaLeuLeuThrGluAlaAsnLeuProAlaProAlaProAlaSerAlaSerAlaProValLeuGluThrLeuGlySerSerGluProAlaGlyGlyAlaLeuArgGlnArgProThrCysSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724320"
    }
  ],
  "type": "nucleotide"
}