{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395343984",
  "communityStandardTitle": [
    "NM_001042432.2(CLN3):c.1037G>A (p.Trp346Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28493445C>T?assembly=hg19",
        "id": "chr16:g.28493445C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28482124C>T?assembly=hg38",
        "id": "chr16:g.28482124C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2506448671",
        "rs": 2506448671
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28482124-C-T?dataset=gnomad_r4",
        "id": "16-28482124-C-T",
        "variant": "16:28482124 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28482124,
          "referenceAllele": "C",
          "start": 28482123
        }
      ],
      "hgvs": [
        "NC_000016.10:g.28482124C>T",
        "CM000678.2:g.28482124C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28493445,
          "referenceAllele": "C",
          "start": 28493444
        }
      ],
      "hgvs": [
        "NC_000016.9:g.28493445C>T",
        "CM000678.1:g.28493445C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28400946,
          "referenceAllele": "C",
          "start": 28400945
        }
      ],
      "hgvs": [
        "NC_000016.8:g.28400946C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15179,
          "referenceAllele": "G",
          "start": 15178
        }
      ],
      "hgvs": [
        "NG_008654.2:g.15179G>A",
        "LRG_689:g.15179G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001147"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.14:c.965G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:p.Trp322Ter",
        "hgvsWellDefined": "ENSP00000329171.9:p.Trp322_Ser414delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.10:c.893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.7:p.Trp298Ter",
        "hgvsWellDefined": "ENSP00000347660.7:p.Trp298_Ser390delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.14:c.875G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:p.Trp292Ter",
        "hgvsWellDefined": "ENSP00000350523.9:p.Trp292_Ser384delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.12:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.9:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000353073.9:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.8:c.965G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.3:p.Trp322Ter",
        "hgvsWellDefined": "ENSP00000353116.3:p.Trp322_Ser414delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.9:c.578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.5:p.Trp193Ter",
        "hgvsWellDefined": "ENSP00000379014.5:p.Trp193_Ser285delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.6:n.1450G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564091.6:c.377G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454466.2:p.Trp126Ter",
        "hgvsWellDefined": "ENSP00000454466.2:p.Trp126_Ser218delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.6:c.986G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:p.Trp329Ter",
        "hgvsWellDefined": "ENSP00000456117.1:p.Trp329_Ser421delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.6:n.1097G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.6:c.875G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.2:p.Trp292Ter",
        "hgvsWellDefined": "ENSP00000455387.2:p.Trp292_Ser384delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.6:n.1466G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.6:c.*274G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.2:n.*274G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.6:n.1268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.6:c.68G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.2:p.Trp23Ter",
        "hgvsWellDefined": "ENSP00000456414.2:p.Trp23Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3365,
          "referenceAllele": "G",
          "start": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.7:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000454229.1:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.3:c.*333G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.*333G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635861.1:c.*689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490034.1:n.*689G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "hgvs": [
        "ENST00000635887.1:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490709.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000490709.1:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635958.1:n.1322G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635973.1:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490363.1:p.Trp263Ter",
        "hgvsWellDefined": "ENSP00000490363.1:p.Trp263_Gln269del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "hgvs": [
        "ENST00000636017.1:c.*561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490538.1:n.*561G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "hgvs": [
        "ENST00000636078.1:n.1159G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "G",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636147.2:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490105.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000490105.1:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762906",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.1037G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.1037G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Trp346Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Trp346Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "referenceAllele": "G",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636172.1:c.*561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490505.1:n.*561G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636228.1:c.731G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489627.1:p.Trp244Ter",
        "hgvsWellDefined": "ENSP00000489627.1:p.Trp244_Ser336delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636351.1:n.931G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "hgvs": [
        "ENST00000636503.1:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489824.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000489824.1:p.Trp346_Met363delinsAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636685.1:n.718G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "G",
          "start": 1167
        }
      ],
      "hgvs": [
        "ENST00000636766.1:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489841.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000489841.1:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "G",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636839.1:n.1411G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636853.1:n.1952G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "hgvs": [
        "ENST00000636866.1:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490880.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000490880.1:p.Trp346_Glu399delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636907.1:n.1188G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2407,
          "referenceAllele": "G",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636977.1:n.2407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "G",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637050.1:n.1426G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637100.1:c.986G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490394.1:p.Trp329Ter",
        "hgvsWellDefined": "ENSP00000490394.1:p.Trp329_Lys370delinsAlaLeuAlaLeuLeuGlnMetGluSerCysSerValThrArgLeuGluCysSerAspAlaValSerAlaHisCysSerLeuArgPheTrpValGlnAlaIleLeuLeuProGlnProProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1469,
          "referenceAllele": "G",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637107.1:c.*561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490248.1:n.*561G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637184.1:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489952.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000489952.1:p.Trp346_Met363delinsAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "hgvs": [
        "ENST00000637299.1:c.*846G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489823.1:n.*846G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "G",
          "start": 1155
        }
      ],
      "hgvs": [
        "ENST00000637376.1:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490758.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000490758.1:p.Trp346_Met363delinsAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 209,
          "referenceAllele": "G",
          "start": 208
        }
      ],
      "hgvs": [
        "ENST00000637378.1:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490831.1:p.Trp70Ter",
        "hgvsWellDefined": "ENSP00000490831.1:p.Trp70_Pro371del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637578.1:c.*561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490206.1:n.*561G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637699.1:c.948G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490049.1:n.948G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "hgvs": [
        "ENST00000637745.1:c.376G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637871.1:c.*735G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490670.1:n.*735G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "referenceAllele": "G",
          "start": 198
        }
      ],
      "hgvs": [
        "ENST00000638036.1:c.199G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.13:c.965G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:p.Trp322Ter",
        "hgvsWellDefined": "ENSP00000329171.9:p.Trp322_Ser414delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.9:c.*274G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.6:n.*274G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357806.11:c.740G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350457.7:p.Trp247Ter",
        "hgvsWellDefined": "ENSP00000350457.7:p.Trp247_Ser339delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.13:c.875G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:p.Trp292Ter",
        "hgvsWellDefined": "ENSP00000350523.9:p.Trp292_Ser384delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.11:c.731G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.8:p.Trp244Ter",
        "hgvsWellDefined": "ENSP00000353073.8:p.Trp244_Ser336delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.6:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.2:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000353116.2:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.8:c.737G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.4:p.Trp246Ter",
        "hgvsWellDefined": "ENSP00000379014.4:p.Trp246_Ser338delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.5:n.1006G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000563874.5:n.2565G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 126,
          "referenceAllele": "G",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564091.5:c.126G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565140.5:c.820G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455342.1:n.820G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.5:c.986G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:p.Trp329Ter",
        "hgvsWellDefined": "ENSP00000456117.1:p.Trp329_Ser421delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565354.5:n.350G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566057.5:c.651G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456693.1:n.651G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "endIntronDirection": "+",
          "endIntronOffset": 353,
          "referenceAllele": "G",
          "start": 1018,
          "startIntronDirection": "+",
          "startIntronOffset": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.5:c.906+353G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.1:n.906+353G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.5:n.948G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "hgvs": [
        "ENST00000568224.4:c.803G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454253.1:p.Trp268Ter",
        "hgvsWellDefined": "ENSP00000454253.1:p.Trp268_Ser360delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.5:c.*274G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.1:n.*274G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.5:n.1165G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569030.5:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454680.1:p.Trp236Ter",
        "hgvsWellDefined": "ENSP00000454680.1:p.Trp236_Met253delinsAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.5:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:p.Trp346Ter",
        "hgvsWellDefined": "ENSP00000454229.1:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.2:c.*333G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.*333G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "endIntronDirection": "+",
          "endIntronOffset": 353,
          "referenceAllele": "G",
          "start": 1229,
          "startIntronDirection": "+",
          "startIntronOffset": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000631023.2:c.906+353G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486616.1:n.906+353G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825053101",
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_000086.2:c.1037G>A",
        "LRG_689t1:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000077.1:p.Trp346Ter",
        "hgvsWellDefined": "NP_000077.1:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580140644",
      "coordinates": [
        {
          "allele": "A",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.1:c.1037G>A",
        "LRG_689t2:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Trp346Ter",
        "hgvsWellDefined": "NP_001035897.1:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009690"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826704610",
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.1:c.965G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Trp322Ter",
        "hgvsWellDefined": "NP_001273033.1:p.Trp322_Ser414delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826705258",
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.1:c.737G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Trp246Ter",
        "hgvsWellDefined": "NP_001273034.1:p.Trp246_Ser338delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826706335",
      "coordinates": [
        {
          "allele": "A",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.1:c.803G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Trp268Ter",
        "hgvsWellDefined": "NP_001273038.1:p.Trp268_Ser360delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707294",
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.1:c.875G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Trp292Ter",
        "hgvsWellDefined": "NP_001273039.1:p.Trp292_Ser384delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580140644",
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "G",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.2:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Trp346Ter",
        "hgvsWellDefined": "NP_001035897.1:p.Trp346_Ser438delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.1037G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.1037G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Trp346Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Trp346Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826704610",
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.2:c.965G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Trp322Ter",
        "hgvsWellDefined": "NP_001273033.1:p.Trp322_Ser414delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826705258",
      "coordinates": [
        {
          "allele": "A",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.2:c.737G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Trp246Ter",
        "hgvsWellDefined": "NP_001273034.1:p.Trp246_Ser338delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826706335",
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.2:c.803G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Trp268Ter",
        "hgvsWellDefined": "NP_001273038.1:p.Trp268_Ser360delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682141"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707294",
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.875G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Trp292Ter",
        "hgvsWellDefined": "NP_001273039.1:p.Trp292_Ser384delinsAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}