{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7630447",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361660[alleleid]",
        "alleleId": 361660,
        "preferredName": "NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374774",
        "RCV": [
          "RCV000416280",
          "RCV000675067",
          "RCV001865306",
          "RCV002248651"
        ],
        "variationId": 374774
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-68500516-A-G",
        "id": "15-68500516-A-G",
        "variant": "15:68500516 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68500516A>G?assembly=hg19",
        "id": "chr15:g.68500516A>G"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68500516_68500542delinsGGGGCTCAGGGACGTAGATGACACCCG?assembly=hg19",
        "id": "chr15:g.68500516_68500542delinsGGGGCTCAGGGACGTAGATGACACCCG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68208178A>G?assembly=hg38",
        "id": "chr15:g.68208178A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750937323",
        "rs": 750937323
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68500516-A-G?dataset=gnomad_r2_1",
        "id": "15-68500516-A-G",
        "variant": "15:68500516 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208178-A-G?dataset=gnomad_r3",
        "id": "15-68208178-A-G",
        "variant": "15:68208178 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208178-A-G?dataset=gnomad_r4",
        "id": "15-68208178-A-G",
        "variant": "15:68208178 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 68208178,
          "referenceAllele": "A",
          "start": 68208177
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68208178A>G",
        "CM000677.2:g.68208178A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 68500516,
          "referenceAllele": "A",
          "start": 68500515
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68500516A>G",
        "CM000677.1:g.68500516A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 66287570,
          "referenceAllele": "A",
          "start": 66287569
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66287570A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54034,
          "referenceAllele": "T",
          "start": 54033
        }
      ],
      "hgvs": [
        "NG_008764.2:g.54034T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.898T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Trp300Arg",
        "hgvsWellDefined": "ENSP00000249806.5:p.Trp300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.898T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.898T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Trp300Arg"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Trp300Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10549,
          "referenceAllele": "T",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10550
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.84-10550T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10550T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.439T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Trp147Arg",
        "hgvsWellDefined": "ENSP00000457384.1:p.Trp147Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*801T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*801T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.*568T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:n.*568T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2000,
          "referenceAllele": "T",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636674.1:n.2000T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2426,
          "referenceAllele": "T",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636964.1:n.2426T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 10358,
          "referenceAllele": "T",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 10357
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.198+10358T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:n.198+10358T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 867,
          "referenceAllele": "T",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.867T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 703,
          "referenceAllele": "T",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.610T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:p.Trp204Arg",
        "hgvsWellDefined": "ENSP00000490057.1:p.Trp204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 10358,
          "referenceAllele": "T",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 10357
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.198+10358T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:n.198+10358T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1175,
          "referenceAllele": "T",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.*501T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:n.*501T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "T",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.541T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 8496,
          "referenceAllele": "T",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 8497
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.39-8497T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "T",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.898T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Trp300Arg",
        "hgvsWellDefined": "ENSP00000249806.5:p.Trp300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1232,
          "referenceAllele": "T",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.994T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Trp332Arg",
        "hgvsWellDefined": "ENSP00000445770.1:p.Trp332Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10549,
          "referenceAllele": "T",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10550
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.84-10550T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10550T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "T",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.439T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Trp147Arg",
        "hgvsWellDefined": "ENSP00000457384.1:p.Trp147Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 843,
          "referenceAllele": "T",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.709T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Trp237Arg",
        "hgvsWellDefined": "ENSP00000457783.1:p.Trp237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "referenceAllele": "T",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.*296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:n.*296T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102253",
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "T",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Trp300Arg",
        "hgvsWellDefined": "NP_060352.1:p.Trp300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102253",
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Trp300Arg",
        "hgvsWellDefined": "NP_060352.1:p.Trp300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.898T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.898T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Trp300Arg"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Trp300Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}