{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7630463",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.831C>T (p.Val277=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2257813",
        "active": true,
        "id": "COSM2257813"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=688478[alleleid]",
        "alleleId": 688478,
        "preferredName": "NM_017882.3(CLN6):c.831C>T (p.Val277=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/700209",
        "RCV": [
          "RCV000868299",
          "RCV001655622",
          "RCV002427156"
        ],
        "variationId": 700209
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-68500583-G-A",
        "id": "15-68500583-G-A",
        "variant": "15:68500583 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68500583G>A?assembly=hg19",
        "id": "chr15:g.68500583G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68208245G>A?assembly=hg38",
        "id": "chr15:g.68208245G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753344266",
        "rs": 753344266
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68500583-G-A?dataset=gnomad_r2_1",
        "id": "15-68500583-G-A",
        "variant": "15:68500583 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208245-G-A?dataset=gnomad_r3",
        "id": "15-68208245-G-A",
        "variant": "15:68208245 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208245-G-A?dataset=gnomad_r4",
        "id": "15-68208245-G-A",
        "variant": "15:68208245 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 68208245,
          "referenceAllele": "G",
          "start": 68208244
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68208245G>A",
        "CM000677.2:g.68208245G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 68500583,
          "referenceAllele": "G",
          "start": 68500582
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68500583G>A",
        "CM000677.1:g.68500583G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 66287637,
          "referenceAllele": "G",
          "start": 66287636
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66287637G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53967,
          "referenceAllele": "C",
          "start": 53966
        }
      ],
      "hgvs": [
        "NG_008764.2:g.53967C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.831C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Val277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.831C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.831C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Val277="
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Val277="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10616,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10617
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.84-10617C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10617C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Val124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.*501C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:n.*501C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636674.1:n.1933C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2359,
          "referenceAllele": "C",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636964.1:n.2359C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 10291,
          "referenceAllele": "C",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 10290
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.198+10291C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:n.198+10291C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.800C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637450.1:c.*485C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490204.1:n.*485C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.543C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637667.1:c.732C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489843.1:p.Val244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637823.1:c.656C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 10291,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 10290
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.198+10291C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:n.198+10291C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.*434C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:n.*434C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.474C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 8563,
          "referenceAllele": "C",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 8564
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.39-8564C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.831C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Val277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Val309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10616,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10617
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.84-10617C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10617C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Val124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Val214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.*229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:n.*229C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829890177",
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.831C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Val277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829890177",
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.831C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Val277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.831C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.831C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Val277="
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Val277="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}