{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7630470",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.798C>T (p.Phe266=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3887364"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=586356[alleleid]",
        "alleleId": 586356,
        "preferredName": "NM_017882.3(CLN6):c.798C>T (p.Phe266=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/595294",
        "RCV": [
          "RCV000730801",
          "RCV001082640"
        ],
        "variationId": 595294
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-68500616-G-A",
        "id": "15-68500616-G-A",
        "variant": "15:68500616 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68500616G>A?assembly=hg19",
        "id": "chr15:g.68500616G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68208278G>A?assembly=hg38",
        "id": "chr15:g.68208278G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140319056",
        "rs": 140319056
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68500616-G-A?dataset=gnomad_r2_1",
        "id": "15-68500616-G-A",
        "variant": "15:68500616 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208278-G-A?dataset=gnomad_r3",
        "id": "15-68208278-G-A",
        "variant": "15:68208278 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208278-G-A?dataset=gnomad_r4",
        "id": "15-68208278-G-A",
        "variant": "15:68208278 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 68208278,
          "referenceAllele": "G",
          "start": 68208277
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68208278G>A",
        "CM000677.2:g.68208278G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 68500616,
          "referenceAllele": "G",
          "start": 68500615
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68500616G>A",
        "CM000677.1:g.68500616G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 66287670,
          "referenceAllele": "G",
          "start": 66287669
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66287670G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53934,
          "referenceAllele": "C",
          "start": 53933
        }
      ],
      "hgvs": [
        "NG_008764.2:g.53934C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Phe266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.798C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.798C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Phe266="
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Phe266="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10649,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10650
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.84-10650C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10650C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.339C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Phe113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*701C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*701C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.*468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:n.*468C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636674.1:n.1900C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2326,
          "referenceAllele": "C",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636964.1:n.2326C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 10258,
          "referenceAllele": "C",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 10257
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.198+10258C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:n.198+10258C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.767C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637450.1:c.*452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490204.1:n.*452C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:p.Phe170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637667.1:c.699C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489843.1:p.Phe233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637823.1:c.623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 10258,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 10257
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.198+10258C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:n.198+10258C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.*401C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:n.*401C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.441C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 8596,
          "referenceAllele": "C",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 8597
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.39-8597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Phe266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.894C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Phe298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10649,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10650
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.84-10650C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10650C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.339C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Phe113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Phe203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.*196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:n.*196C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829890168",
      "coordinates": [
        {
          "allele": "T",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.798C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Phe266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829890168",
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.798C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Phe266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.798C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.798C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Phe266="
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Phe266="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}