{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7630525",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.597C>G (p.Ala199=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=874054[alleleid]",
        "alleleId": 874054,
        "preferredName": "NM_017882.3(CLN6):c.597C>G (p.Ala199=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/888282",
        "RCV": [
          "RCV001121504"
        ],
        "variationId": 888282
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-68502043-G-C",
        "id": "15-68502043-G-C",
        "variant": "15:68502043 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68502043G>C?assembly=hg19",
        "id": "chr15:g.68502043G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68209705G>C?assembly=hg38",
        "id": "chr15:g.68209705G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368546281",
        "rs": 368546281
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68502043-G-C?dataset=gnomad_r2_1",
        "id": "15-68502043-G-C",
        "variant": "15:68502043 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68209705-G-C?dataset=gnomad_r3",
        "id": "15-68209705-G-C",
        "variant": "15:68209705 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68209705-G-C?dataset=gnomad_r4",
        "id": "15-68209705-G-C",
        "variant": "15:68209705 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 68209705,
          "referenceAllele": "G",
          "start": 68209704
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68209705G>C",
        "CM000677.2:g.68209705G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 68502043,
          "referenceAllele": "G",
          "start": 68502042
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68502043G>C",
        "CM000677.1:g.68502043G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 66289097,
          "referenceAllele": "G",
          "start": 66289096
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66289097G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52507,
          "referenceAllele": "C",
          "start": 52506
        }
      ],
      "hgvs": [
        "NG_008764.2:g.52507C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.597C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Ala199="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.597C>G"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.597C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Ala199="
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Ala199="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 12076,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 12077
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.84-12077C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-12077C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000563917.2:n.439C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.138C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*500C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*500C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.*267C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:n.*267C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636314.1:c.293C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490295.1:p.Pro98Arg",
        "hgvsWellDefined": "ENSP00000490295.1:p.Pro98Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636674.1:n.1699C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "C",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636964.1:n.2125C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 8831,
          "referenceAllele": "C",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 8830
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.198+8831C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:n.198+8831C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637223.1:c.*311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490010.1:n.*311C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.566C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637450.1:c.*251C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490204.1:n.*251C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.309C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:p.Ala103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637667.1:c.498C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489843.1:p.Ala166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637823.1:c.422C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 8831,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 8830
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.198+8831C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:n.198+8831C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.*200C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:n.*200C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.240C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38,
          "endIntronDirection": "+",
          "endIntronOffset": 8831,
          "referenceAllele": "C",
          "start": 38,
          "startIntronDirection": "+",
          "startIntronOffset": 8830
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.38+8831C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.597C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Ala199="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.693C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Ala231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 12076,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 12077
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.84-12077C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-12077C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 497,
          "referenceAllele": "C",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000563917.1:n.497C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000564752.1:c.623C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457822.1:p.Pro208Arg",
        "hgvsWellDefined": "ENSP00000457822.1:p.Pro208Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.138C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.408C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Ala136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.313C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:p.Leu105Val",
        "hgvsWellDefined": "ENSP00000454818.1:p.Leu105Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829890122",
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.597C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Ala199="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "XR_931861.1:n.819C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829890122",
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.597C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Ala199="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.597C>G"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.597C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Ala199="
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Ala199="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}