{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA313678",
  "communityStandardTitle": [
    "NM_001042432.2(CLN3):c.-41C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203292[alleleid]",
        "alleleId": 203292,
        "preferredName": "NM_001042432.2(CLN3):c.-41C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205081",
        "RCV": [
          "RCV000187002",
          "RCV001116116"
        ],
        "variationId": 205081
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-28503121-G-T",
        "id": "16-28503121-G-T",
        "variant": "16:28503121 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28503121G>T?assembly=hg19",
        "id": "chr16:g.28503121G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28491800G>T?assembly=hg38",
        "id": "chr16:g.28491800G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370217726",
        "rs": 370217726
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28503121-G-T?dataset=gnomad_r2_1",
        "id": "16-28503121-G-T",
        "variant": "16:28503121 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28491800-G-T?dataset=gnomad_r3",
        "id": "16-28491800-G-T",
        "variant": "16:28491800 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28491800-G-T?dataset=gnomad_r4",
        "id": "16-28491800-G-T",
        "variant": "16:28491800 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28491800,
          "referenceAllele": "G",
          "start": 28491799
        }
      ],
      "hgvs": [
        "NC_000016.10:g.28491800G>T",
        "CM000678.2:g.28491800G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28503121,
          "referenceAllele": "G",
          "start": 28503120
        }
      ],
      "hgvs": [
        "NC_000016.9:g.28503121G>T",
        "CM000678.1:g.28503121G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28410622,
          "referenceAllele": "G",
          "start": 28410621
        }
      ],
      "hgvs": [
        "NC_000016.8:g.28410622G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5503,
          "referenceAllele": "C",
          "start": 5502
        }
      ],
      "hgvs": [
        "NG_008654.2:g.5503C>A",
        "LRG_689:g.5503C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001147"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.14:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 206,
          "referenceAllele": "C",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.14:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.12:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.9:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.8:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.3:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.9:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.5:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12,
          "referenceAllele": "C",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561505.2:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457615.2:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.6:n.245C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.6:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.6:n.265C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "referenceAllele": "C",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567495.6:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456013.2:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.6:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.2:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.6:n.87C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33,
          "referenceAllele": "C",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.6:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.2:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568443.2:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454899.2:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "referenceAllele": "C",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.6:n.63C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.6:n.212C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.6:c.-476C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.2:n.-476C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.6:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.2:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2288,
          "referenceAllele": "C",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.7:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.3:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78,
          "referenceAllele": "C",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635861.1:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490034.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58,
          "referenceAllele": "C",
          "start": 57
        }
      ],
      "hgvs": [
        "ENST00000635887.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490709.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "C",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635958.1:n.71C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635973.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490363.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
      "hgvs": [
        "ENST00000636017.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490538.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2,
          "referenceAllele": "C",
          "start": 1
        }
      ],
      "hgvs": [
        "ENST00000636078.1:n.2C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636147.2:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490105.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762906",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.-41C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.-41C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:n.-41C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:n.-41C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "C",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636172.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490505.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636228.1:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489627.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "hgvs": [
        "ENST00000636766.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489841.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "C",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636839.1:n.112C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "C",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636853.1:n.36C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "hgvs": [
        "ENST00000636866.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490880.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636977.1:n.59C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637100.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490394.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637107.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490248.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637184.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489952.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "hgvs": [
        "ENST00000637299.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489823.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "referenceAllele": "C",
          "start": 78
        }
      ],
      "hgvs": [
        "ENST00000637376.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490758.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637578.1:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490206.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637871.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490670.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.13:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.9:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.6:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357806.11:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350457.7:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54,
          "referenceAllele": "C",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.13:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.11:c.-203C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.8:n.-203C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.6:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.2:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.8:c.-182C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.4:n.-182C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66,
          "referenceAllele": "C",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561505.1:c.-182C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457615.1:n.-182C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000563874.5:n.1314C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564574.5:n.87C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "C",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565047.1:n.27C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565236.1:n.243C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80,
          "referenceAllele": "C",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565688.5:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456122.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28,
          "referenceAllele": "C",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.5:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38,
          "referenceAllele": "C",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.5:n.38C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "C",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.5:n.89C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33,
          "referenceAllele": "C",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567495.5:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456013.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567804.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455365.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "referenceAllele": "C",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.5:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "hgvs": [
        "ENST00000568224.4:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454253.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.5:c.-182C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.1:n.-182C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568443.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454899.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.5:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.5:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "C",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.5:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.2:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000631023.2:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486616.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_000086.2:c.-41C>A",
        "LRG_689t1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000077.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.1:c.-41C>A",
        "LRG_689t2:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.1:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.1:c.-182C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:n.-182C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.1:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.1:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.2:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.-41C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.-41C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:n.-41C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:n.-41C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.2:c.-41C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:n.-41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.2:c.-182C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:n.-182C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.2:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}