{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1757667004",
  "communityStandardTitle": [
    "NM_018941.4(CLN8):c.227A= (p.Gln76=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386834125",
        "rs": 386834125
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1771281,
          "referenceAllele": "A",
          "start": 1771280
        }
      ],
      "hgvs": [
        "NC_000008.11:g.1771281A=",
        "CM000670.2:g.1771281A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1719447,
          "referenceAllele": "A",
          "start": 1719446
        }
      ],
      "hgvs": [
        "NC_000008.10:g.1719447A=",
        "CM000670.1:g.1719447A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1706854,
          "referenceAllele": "A",
          "start": 1706853
        }
      ],
      "hgvs": [
        "NC_000008.9:g.1706854A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20504,
          "referenceAllele": "A",
          "start": 20503
        }
      ],
      "hgvs": [
        "NG_008656.2:g.20504A=",
        "LRG_691:g.20504A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "A",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.6:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.227A="
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.227A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Gln76="
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Gln76="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000519254.2:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490016.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "A",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000520991.3:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487905.2:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "A",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000524258.2:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488898.2:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635751.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489694.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "hgvs": [
        "ENST00000635773.1:c.180A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "A",
          "start": 403
        }
      ],
      "hgvs": [
        "ENST00000635855.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489726.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "A",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635970.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490439.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "A",
          "start": 26
        }
      ],
      "hgvs": [
        "ENST00000636175.1:c.27A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000636934.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490218.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "referenceAllele": "A",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637083.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490235.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "A",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637156.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490458.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637594.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489999.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "referenceAllele": "A",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.4:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "A",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000520991.2:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487905.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "A",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000524258.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488898.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829923410",
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.3:c.227A=",
        "LRG_691t1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "A",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.3:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "A",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266022.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266079.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266023.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266080.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "A",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534745.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533047.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.1:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "A",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.4:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 374,
          "referenceAllele": "A",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.2:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "A",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.2:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829923410",
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "A",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.4:c.227A="
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Gln76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.227A="
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.227A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Gln76="
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Gln76="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}