{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620176",
  "communityStandardTitle": [
    "NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409592[alleleid]",
        "alleleId": 409592,
        "preferredName": "NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420007",
        "RCV": [
          "RCV000480738",
          "RCV001729612",
          "RCV003532139"
        ],
        "variationId": 420007
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28495333T>A?assembly=hg19",
        "id": "chr16:g.28495333T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28484012T>A?assembly=hg38",
        "id": "chr16:g.28484012T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794233",
        "rs": 1064794233
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28484012-T-A?dataset=gnomad_r4",
        "id": "16-28484012-T-A",
        "variant": "16:28484012 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28484012,
          "referenceAllele": "T",
          "start": 28484011
        }
      ],
      "hgvs": [
        "NC_000016.10:g.28484012T>A",
        "CM000678.2:g.28484012T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28495333,
          "referenceAllele": "T",
          "start": 28495332
        }
      ],
      "hgvs": [
        "NC_000016.9:g.28495333T>A",
        "CM000678.1:g.28495333T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28402834,
          "referenceAllele": "T",
          "start": 28402833
        }
      ],
      "hgvs": [
        "NC_000016.8:g.28402834T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13291,
          "referenceAllele": "A",
          "start": 13290
        }
      ],
      "hgvs": [
        "NG_008654.2:g.13291A>T",
        "LRG_689:g.13291A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001147"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.14:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:p.Lys238Ter",
        "hgvsWellDefined": "ENSP00000329171.9:p.Lys238_Ser414delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.10:c.640A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.7:p.Lys214Ter",
        "hgvsWellDefined": "ENSP00000347660.7:p.Lys214_Ser390delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "A",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.14:c.622A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:p.Lys208Ter",
        "hgvsWellDefined": "ENSP00000350523.9:p.Lys208_Ser384delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "A",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.12:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.9:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000353073.9:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.8:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.3:p.Lys238Ter",
        "hgvsWellDefined": "ENSP00000353116.3:p.Lys238_Ser414delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "A",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.9:c.325A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.5:p.Lys109Ter",
        "hgvsWellDefined": "ENSP00000379014.5:p.Lys109_Ser285delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "A",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.6:n.1069A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "referenceAllele": "A",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564091.6:c.124A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454466.2:p.Lys42Ter",
        "hgvsWellDefined": "ENSP00000454466.2:p.Lys42_Ser218delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.6:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000456117.1:p.Lys262_Ser421delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "A",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.6:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:p.Lys139Ter",
        "hgvsWellDefined": "ENSP00000458015.1:p.Lys139_Val167del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "A",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.6:n.1242A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "A",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.6:n.764A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.6:c.622A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.2:p.Lys208Ter",
        "hgvsWellDefined": "ENSP00000455387.2:p.Lys208_Ser384delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.6:n.911A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.6:c.*21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.2:n.*21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "A",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.6:n.887A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "A",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.6:n.660A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "A",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.6:c.-186A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.2:n.-186A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.6:c.487A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.2:p.Lys163Ter",
        "hgvsWellDefined": "ENSP00000455603.2:p.Lys163_Thr177del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3112,
          "referenceAllele": "A",
          "start": 3111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.7:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000454229.1:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.3:c.*80A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.*80A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "A",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635861.1:c.*308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490034.1:n.*308A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "A",
          "start": 881
        }
      ],
      "hgvs": [
        "ENST00000635887.1:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490709.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000490709.1:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "A",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635958.1:n.895A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635973.1:c.535A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490363.1:p.Lys179Ter",
        "hgvsWellDefined": "ENSP00000490363.1:p.Lys179_Gln269del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "A",
          "start": 858
        }
      ],
      "hgvs": [
        "ENST00000636017.1:c.*308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490538.1:n.*308A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "hgvs": [
        "ENST00000636078.1:n.826A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636147.2:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490105.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000490105.1:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762906",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.784A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.784A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Lys262Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Lys262Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636172.1:c.*308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490505.1:n.*308A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636228.1:c.478A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489627.1:p.Lys160Ter",
        "hgvsWellDefined": "ENSP00000489627.1:p.Lys160_Ser336delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636351.1:n.504A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "A",
          "start": 814
        }
      ],
      "hgvs": [
        "ENST00000636503.1:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489824.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000489824.1:p.Lys262_Met363delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "A",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636685.1:n.291A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "hgvs": [
        "ENST00000636766.1:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489841.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000489841.1:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636839.1:n.936A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "A",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636853.1:n.1699A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "hgvs": [
        "ENST00000636866.1:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490880.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000490880.1:p.Lys262_Glu399delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636907.1:n.935A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "A",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636977.1:n.1852A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 871,
          "referenceAllele": "A",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637050.1:n.871A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637100.1:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490394.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000490394.1:p.Lys262_Lys370delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerCysSerValThrArgLeuGluCysSerAspAlaValSerAlaHisCysSerLeuArgPheTrpValGlnAlaIleLeuLeuProGlnProProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1216,
          "referenceAllele": "A",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637107.1:c.*308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490248.1:n.*308A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637184.1:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489952.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000489952.1:p.Lys262_Met363delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "A",
          "start": 840
        }
      ],
      "hgvs": [
        "ENST00000637299.1:c.*593A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489823.1:n.*593A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "A",
          "start": 902
        }
      ],
      "hgvs": [
        "ENST00000637376.1:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490758.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000490758.1:p.Lys262_Met363delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "A",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637578.1:c.*308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490206.1:n.*308A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637699.1:c.567A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490049.1:n.567A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123,
          "referenceAllele": "A",
          "start": 122
        }
      ],
      "hgvs": [
        "ENST00000637745.1:c.123A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "A",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637871.1:c.*308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490670.1:n.*308A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.13:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:p.Lys238Ter",
        "hgvsWellDefined": "ENSP00000329171.9:p.Lys238_Ser414delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.9:c.*21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.6:n.*21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "A",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357806.11:c.487A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350457.7:p.Lys163Ter",
        "hgvsWellDefined": "ENSP00000350457.7:p.Lys163_Ser339delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "A",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.13:c.622A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:p.Lys208Ter",
        "hgvsWellDefined": "ENSP00000350523.9:p.Lys208_Ser384delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 963,
          "referenceAllele": "A",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.11:c.478A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.8:p.Lys160Ter",
        "hgvsWellDefined": "ENSP00000353073.8:p.Lys160_Ser336delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.6:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.2:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000353116.2:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "A",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.8:c.484A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.4:p.Lys162Ter",
        "hgvsWellDefined": "ENSP00000379014.4:p.Lys162_Ser338delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "referenceAllele": "A",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.5:n.625A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "A",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000563874.5:n.2138A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "A",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564574.5:n.832A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565047.1:n.378A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565140.5:c.567A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455342.1:n.567A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.5:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000456117.1:p.Lys262_Ser421delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3,
          "referenceAllele": "A",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565354.5:n.3A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "A",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.5:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:p.Lys139Ter",
        "hgvsWellDefined": "ENSP00000458015.1:p.Lys139_Val167del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566057.5:c.398A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456693.1:n.398A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.5:n.1015A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "A",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.5:n.833A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567495.5:c.*21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456013.1:n.*21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "A",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.5:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000455387.1:p.Lys262_Ser341delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.5:n.567A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "A",
          "start": 885
        }
      ],
      "hgvs": [
        "ENST00000568224.4:c.550A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454253.1:p.Lys184Ter",
        "hgvsWellDefined": "ENSP00000454253.1:p.Lys184_Ser360delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.5:c.*21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.1:n.*21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.5:n.784A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "A",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.5:n.264A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.5:c.*80A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.1:n.*80A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.5:c.325A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.1:p.Lys109Ter",
        "hgvsWellDefined": "ENSP00000455603.1:p.Lys109_Leu184del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "endIntronDirection": "-",
          "endIntronOffset": 1339,
          "referenceAllele": "A",
          "start": 460,
          "startIntronDirection": "-",
          "startIntronOffset": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569030.5:c.461-1340A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454680.1:n.461-1340A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1604,
          "referenceAllele": "A",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.5:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000454229.1:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.2:c.*80A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.*80A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "A",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000631023.2:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486616.1:p.Lys262Ter",
        "hgvsWellDefined": "ENSP00000486616.1:p.Lys262_Ser341delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825052930",
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "A",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_000086.2:c.784A>T",
        "LRG_689t1:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000077.1:p.Lys262Ter",
        "hgvsWellDefined": "NP_000077.1:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645509960",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.1:c.784A>T",
        "LRG_689t2:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Lys262Ter",
        "hgvsWellDefined": "NP_001035897.1:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009690"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826704431",
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.1:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Lys238Ter",
        "hgvsWellDefined": "NP_001273033.1:p.Lys238_Ser414delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826705075",
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "A",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.1:c.484A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Lys162Ter",
        "hgvsWellDefined": "NP_001273034.1:p.Lys162_Ser338delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826706079",
      "coordinates": [
        {
          "allele": "T",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.1:c.550A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Lys184Ter",
        "hgvsWellDefined": "NP_001273038.1:p.Lys184_Ser360delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707131",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "A",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.1:c.622A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Lys208Ter",
        "hgvsWellDefined": "NP_001273039.1:p.Lys208_Ser384delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645509960",
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.2:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Lys262Ter",
        "hgvsWellDefined": "NP_001035897.1:p.Lys262_Ser438delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.784A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.784A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Lys262Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Lys262Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826704431",
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "referenceAllele": "A",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.2:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Lys238Ter",
        "hgvsWellDefined": "NP_001273033.1:p.Lys238_Ser414delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826705075",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "A",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.2:c.484A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Lys162Ter",
        "hgvsWellDefined": "NP_001273034.1:p.Lys162_Ser338delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826706079",
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "A",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.2:c.550A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Lys184Ter",
        "hgvsWellDefined": "NP_001273038.1:p.Lys184_Ser360delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682141"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707131",
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.622A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Lys208Ter",
        "hgvsWellDefined": "NP_001273039.1:p.Lys208_Ser384delinsProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}