{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7630697",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.185G>A (p.Arg62His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6309426",
        "active": true,
        "id": "COSM6309426"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513633[alleleid]",
        "alleleId": 513633,
        "preferredName": "NM_017882.3(CLN6):c.185G>A (p.Arg62His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523022",
        "RCV": [
          "RCV000626225",
          "RCV002529782",
          "RCV003228965"
        ],
        "variationId": 523022
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-68510887-C-T",
        "id": "15-68510887-C-T",
        "variant": "15:68510887 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68510887C>T?assembly=hg19",
        "id": "chr15:g.68510887C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68218549C>T?assembly=hg38",
        "id": "chr15:g.68218549C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751486476",
        "rs": 751486476
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68510887-C-T?dataset=gnomad_r2_1",
        "id": "15-68510887-C-T",
        "variant": "15:68510887 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68218549-C-T?dataset=gnomad_r4",
        "id": "15-68218549-C-T",
        "variant": "15:68218549 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 68218549,
          "referenceAllele": "C",
          "start": 68218548
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68218549C>T",
        "CM000677.2:g.68218549C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 68510887,
          "referenceAllele": "C",
          "start": 68510886
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68510887C>T",
        "CM000677.1:g.68510887C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 66297941,
          "referenceAllele": "C",
          "start": 66297940
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66297941C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43663,
          "referenceAllele": "G",
          "start": 43662
        }
      ],
      "hgvs": [
        "NG_008764.2:g.43663G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 329,
          "referenceAllele": "G",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Arg62His",
        "hgvsWellDefined": "ENSP00000249806.5:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.185G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.185G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Arg62His"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Arg62His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 10953,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 10952
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.83+10953G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.83+10953G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40,
          "endIntronDirection": "-",
          "endIntronOffset": 4160,
          "referenceAllele": "G",
          "start": 40,
          "startIntronDirection": "-",
          "startIntronOffset": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000563917.2:n.41-4161G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "endIntronDirection": "-",
          "endIntronOffset": 8789,
          "referenceAllele": "G",
          "start": 171,
          "startIntronDirection": "-",
          "startIntronOffset": 8790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.84-8790G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:n.84-8790G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94,
          "referenceAllele": "G",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000569336.2:n.94G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*88G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*88G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636020.1:n.317G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000489851.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 4160,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636314.1:c.84-4161G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490295.1:n.84-4161G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "referenceAllele": "G",
          "start": 277
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000490807.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637223.1:c.*88G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490010.1:n.*88G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.96G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 176,
          "endIntronDirection": "-",
          "endIntronOffset": 4160,
          "referenceAllele": "G",
          "start": 176,
          "startIntronDirection": "-",
          "startIntronOffset": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637450.1:c.84-4161G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490204.1:n.84-4161G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "referenceAllele": "G",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000490057.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637667.1:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489843.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000489843.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637823.1:c.111G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000490546.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000490373.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 4160,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.31-4161G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25,
          "referenceAllele": "G",
          "start": 24
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.25G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Arg62His",
        "hgvsWellDefined": "ENSP00000249806.5:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "G",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000445770.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 10953,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 10952
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.83+10953G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.83+10953G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000564752.1:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457822.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000457822.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000564846.1:n.617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "endIntronDirection": "-",
          "endIntronOffset": 8789,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "-",
          "startIntronOffset": 8790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.84-8790G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:n.84-8790G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000457783.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:p.Arg62His",
        "hgvsWellDefined": "ENSP00000454818.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000569336.1:n.271G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381407"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102080",
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Arg62His",
        "hgvsWellDefined": "NP_060352.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "XR_931861.1:n.288G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102080",
      "coordinates": [
        {
          "allele": "A",
          "end": 329,
          "referenceAllele": "G",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.185G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Arg62His",
        "hgvsWellDefined": "NP_060352.1:p.Arg62His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.185G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.185G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Arg62His"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Arg62His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}