{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7630663",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.213C>G (p.Leu71=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=332907[alleleid]",
        "alleleId": 332907,
        "preferredName": "NM_017882.3(CLN6):c.213C>G (p.Leu71=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/316997",
        "RCV": [
          "RCV000424102",
          "RCV000867995"
        ],
        "variationId": 316997
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-68506712-G-C",
        "id": "15-68506712-G-C",
        "variant": "15:68506712 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68506712G>C?assembly=hg19",
        "id": "chr15:g.68506712G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68214374G>C?assembly=hg38",
        "id": "chr15:g.68214374G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146980624",
        "rs": 146980624
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68506712-G-C?dataset=gnomad_r2_1",
        "id": "15-68506712-G-C",
        "variant": "15:68506712 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68214374-G-C?dataset=gnomad_r3",
        "id": "15-68214374-G-C",
        "variant": "15:68214374 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68214374-G-C?dataset=gnomad_r4",
        "id": "15-68214374-G-C",
        "variant": "15:68214374 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 68214374,
          "referenceAllele": "G",
          "start": 68214373
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68214374G>C",
        "CM000677.2:g.68214374G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 68506712,
          "referenceAllele": "G",
          "start": 68506711
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68506712G>C",
        "CM000677.1:g.68506712G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 66293766,
          "referenceAllele": "G",
          "start": 66293765
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66293766G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47838,
          "referenceAllele": "C",
          "start": 47837
        }
      ],
      "hgvs": [
        "NG_008764.2:g.47838C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.213C>G"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.213C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Leu71="
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Leu71="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 15128,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 15127
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.83+15128C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.83+15128C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55,
          "referenceAllele": "C",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000563917.2:n.55C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "endIntronDirection": "-",
          "endIntronOffset": 4614,
          "referenceAllele": "C",
          "start": 171,
          "startIntronDirection": "-",
          "startIntronOffset": 4615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.84-4615C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:n.84-4615C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*116C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*116C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635754.1:n.1235C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636020.1:n.345C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 214,
          "referenceAllele": "C",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636314.1:c.98C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490295.1:p.Ser33Trp",
        "hgvsWellDefined": "ENSP00000490295.1:p.Ser33Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 4162,
          "referenceAllele": "C",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 4161
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.198+4162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:n.198+4162C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637223.1:c.*116C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490010.1:n.*116C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "referenceAllele": "C",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.124C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637450.1:c.98C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490204.1:p.Ser33Trp",
        "hgvsWellDefined": "ENSP00000490204.1:p.Ser33Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "endIntronDirection": "-",
          "endIntronOffset": 3055,
          "referenceAllele": "C",
          "start": 291,
          "startIntronDirection": "-",
          "startIntronOffset": 3056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.199-3056C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:n.199-3056C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "endIntronDirection": "-",
          "endIntronOffset": 2510,
          "referenceAllele": "C",
          "start": 317,
          "startIntronDirection": "-",
          "startIntronOffset": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637667.1:c.199-2511C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489843.1:n.199-2511C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637823.1:c.139C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 4162,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 4161
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.198+4162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:n.198+4162C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 45,
          "referenceAllele": "C",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.45C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38,
          "endIntronDirection": "+",
          "endIntronOffset": 4162,
          "referenceAllele": "C",
          "start": 38,
          "startIntronDirection": "+",
          "startIntronOffset": 4161
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.38+4162C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.309C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Leu103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 15128,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 15127
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.83+15128C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.83+15128C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000564752.1:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457822.1:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000564846.1:n.645C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "endIntronDirection": "-",
          "endIntronOffset": 4614,
          "referenceAllele": "C",
          "start": 170,
          "startIntronDirection": "-",
          "startIntronOffset": 4615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.84-4615C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:n.84-4615C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829890038",
      "coordinates": [
        {
          "allele": "G",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "XR_931861.1:n.316C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829890038",
      "coordinates": [
        {
          "allele": "G",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Leu71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.213C>G"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.213C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Leu71="
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Leu71="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}