{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395345758",
  "communityStandardTitle": [
    "NM_001042432.2(CLN3):c.460+2T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2134148[alleleid]",
        "alleleId": 2134148,
        "preferredName": "NM_001042432.2(CLN3):c.460+2T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2087857",
        "RCV": [
          "RCV003009773"
        ],
        "variationId": 2087857
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28498775A>C?assembly=hg19",
        "id": "chr16:g.28498775A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28487454A>C?assembly=hg38",
        "id": "chr16:g.28487454A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2506491466",
        "rs": 2506491466
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28487454-A-C?dataset=gnomad_r4",
        "id": "16-28487454-A-C",
        "variant": "16:28487454 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 28487454,
          "referenceAllele": "A",
          "start": 28487453
        }
      ],
      "hgvs": [
        "NC_000016.10:g.28487454A>C",
        "CM000678.2:g.28487454A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 28498775,
          "referenceAllele": "A",
          "start": 28498774
        }
      ],
      "hgvs": [
        "NC_000016.9:g.28498775A>C",
        "CM000678.1:g.28498775A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 28406276,
          "referenceAllele": "A",
          "start": 28406275
        }
      ],
      "hgvs": [
        "NC_000016.8:g.28406276A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9849,
          "referenceAllele": "T",
          "start": 9848
        }
      ],
      "hgvs": [
        "NG_008654.2:g.9849T>G",
        "LRG_689:g.9849T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001147"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 520,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 520,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.14:c.388+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:n.388+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.10:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.7:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 627,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.14:c.298+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:n.298+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 775,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.12:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.9:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 747,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.8:c.388+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.3:n.388+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.9:c.218+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.5:n.218+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 281,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 281,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561505.2:c.146+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457615.2:n.146+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 745,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 745,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.6:n.745+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.6:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 495,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.6:c.308+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:n.308+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 918,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.6:n.918+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 440,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.6:n.440+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 582,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567495.6:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456013.2:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 512,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 512,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.6:c.298+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.2:n.298+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 587,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.6:n.587+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 533,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.6:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.2:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 896,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568443.2:c.613+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454899.2:n.613+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.6:n.563+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.6:n.553+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "endIntronDirection": "+",
          "endIntronOffset": 1836,
          "referenceAllele": "T",
          "start": 380,
          "startIntronDirection": "+",
          "startIntronOffset": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.6:c.-293+1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.2:n.-293+1836T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 484,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.6:c.380+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.2:n.380+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2788,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2788,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.7:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 1836,
          "referenceAllele": "T",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.3:c.222+1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.222+1836T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635861.1:c.218+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490034.1:n.218+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 558,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 558,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000635887.1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490709.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762712"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 571,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 571,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635958.1:n.571+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 488,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635973.1:c.211+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490363.1:n.211+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 535,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000636017.1:c.380+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490538.1:n.380+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 502,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 502,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000636078.1:n.502+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636147.2:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490105.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762906",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.460+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.460+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:n.460+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:n.460+2T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 679,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636172.1:c.380+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490505.1:n.380+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636228.1:c.298+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489627.1:n.298+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636351.1:n.180+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 491,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000636503.1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489824.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000636766.1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489841.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636839.1:n.612+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "T",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636853.1:n.538T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000636866.1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490880.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1528,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1528,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636977.1:n.1528+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 587,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637100.1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490394.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 892,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 892,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637107.1:c.533+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490248.1:n.533+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637184.1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489952.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 517,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000637299.1:c.*269+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489823.1:n.*269+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000637376.1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490758.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637578.1:c.218+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490206.1:n.218+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637699.1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490049.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 511,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 511,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637871.1:c.380+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490670.1:n.380+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 589,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637985.1:c.*399+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490932.1:n.*399+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 487,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 487,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.13:c.388+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:n.388+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.9:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.6:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 604,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357806.11:c.380+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350457.7:n.380+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 475,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 475,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.13:c.298+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:n.298+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.11:c.298+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.8:n.298+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264975"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 819,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.6:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.2:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.8:c.160+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.4:n.160+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561505.1:c.160+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457615.1:n.160+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.5:n.301+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1814,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000563874.5:n.1814+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 508,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564574.5:n.508+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 271,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565047.1:n.271+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565140.5:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455342.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.5:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565688.5:c.211+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456122.1:n.211+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 376,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.5:c.308+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:n.308+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566057.5:c.291+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456693.1:n.291+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 691,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.5:n.691+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 509,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.5:n.509+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 533,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567495.5:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456013.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.5:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.5:n.460+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000568224.4:c.226+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454253.1:n.226+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.5:c.240+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.1:n.240+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.5:n.460+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 1836,
          "referenceAllele": "T",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.5:n.157+1836T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 1836,
          "referenceAllele": "T",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.5:c.222+1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.1:n.222+1836T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.5:c.218+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.1:n.218+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569030.5:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454680.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1280,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1280,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.5:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "endIntronDirection": "+",
          "endIntronOffset": 1836,
          "referenceAllele": "T",
          "start": 545,
          "startIntronDirection": "+",
          "startIntronOffset": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.2:c.222+1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.222+1836T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000631023.2:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486616.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_000086.2:c.460+2T>G",
        "LRG_689t1:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000077.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 819,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.1:c.460+2T>G",
        "LRG_689t2:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 747,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.1:c.388+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:n.388+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 624,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 624,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.1:c.160+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:n.160+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 632,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.1:c.226+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:n.226+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.1:c.298+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:n.298+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.2:c.460+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:n.460+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.460+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.460+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:n.460+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:n.460+2T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 519,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 519,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.2:c.388+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:n.388+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 616,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.2:c.160+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:n.160+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 624,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 624,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.2:c.226+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:n.226+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.298+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:n.298+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}