{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA313980",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.755G>A (p.Arg252His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2257817",
        "active": true,
        "id": "COSM2257817"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202869[alleleid]",
        "alleleId": 202869,
        "preferredName": "NM_017882.3(CLN6):c.755G>A (p.Arg252His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205176",
        "RCV": [
          "RCV000187105",
          "RCV000671648",
          "RCV001083020",
          "RCV002390489"
        ],
        "variationId": 205176
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-68500659-C-T",
        "id": "15-68500659-C-T",
        "variant": "15:68500659 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68500659C>T?assembly=hg19",
        "id": "chr15:g.68500659C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68208321C>T?assembly=hg38",
        "id": "chr15:g.68208321C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374681194",
        "rs": 374681194
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68500659-C-T?dataset=gnomad_r2_1",
        "id": "15-68500659-C-T",
        "variant": "15:68500659 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208321-C-T?dataset=gnomad_r3",
        "id": "15-68208321-C-T",
        "variant": "15:68208321 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208321-C-T?dataset=gnomad_r4",
        "id": "15-68208321-C-T",
        "variant": "15:68208321 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 68208321,
          "referenceAllele": "C",
          "start": 68208320
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68208321C>T",
        "CM000677.2:g.68208321C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 68500659,
          "referenceAllele": "C",
          "start": 68500658
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68500659C>T",
        "CM000677.1:g.68500659C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 66287713,
          "referenceAllele": "C",
          "start": 66287712
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66287713C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53891,
          "referenceAllele": "G",
          "start": 53890
        }
      ],
      "hgvs": [
        "NG_008764.2:g.53891G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.755G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Arg252His",
        "hgvsWellDefined": "ENSP00000249806.5:p.Arg252His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.755G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.755G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Arg252His"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Arg252His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10692,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10693
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.84-10693G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10693G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Arg99His",
        "hgvsWellDefined": "ENSP00000457384.1:p.Arg99His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*658G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*658G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.*425G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:n.*425G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636674.1:n.1857G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2283,
          "referenceAllele": "G",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636964.1:n.2283G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 10215,
          "referenceAllele": "G",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 10214
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.198+10215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:n.198+10215G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.724G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637450.1:c.*409G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490204.1:n.*409G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:p.Arg156His",
        "hgvsWellDefined": "ENSP00000490057.1:p.Arg156His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637667.1:c.656G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489843.1:p.Arg219His",
        "hgvsWellDefined": "ENSP00000489843.1:p.Arg219His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637823.1:c.580G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 10215,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 10214
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.198+10215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:n.198+10215G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.*358G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:n.*358G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.398G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 8639,
          "referenceAllele": "G",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 8640
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.39-8640G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.755G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Arg252His",
        "hgvsWellDefined": "ENSP00000249806.5:p.Arg252His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000445770.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10692,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10693
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.84-10693G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10693G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Arg99His",
        "hgvsWellDefined": "ENSP00000457384.1:p.Arg99His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Arg189His",
        "hgvsWellDefined": "ENSP00000457783.1:p.Arg189His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.*153G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:n.*153G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102076",
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.755G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Arg252His",
        "hgvsWellDefined": "NP_060352.1:p.Arg252His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102076",
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.755G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Arg252His",
        "hgvsWellDefined": "NP_060352.1:p.Arg252His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.755G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.755G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Arg252His"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Arg252His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}