{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1337623375",
  "communityStandardTitle": [
    "NM_004369.4(COL6A3):c.3844G= (p.Val1282=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/535661345",
        "rs": 535661345
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 237372173,
          "referenceAllele": "C",
          "start": 237372172
        }
      ],
      "hgvs": [
        "NC_000002.12:g.237372173C=",
        "CM000664.2:g.237372173C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 238280816,
          "referenceAllele": "C",
          "start": 238280815
        }
      ],
      "hgvs": [
        "NC_000002.11:g.238280816C=",
        "CM000664.1:g.238280816C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 237945555,
          "referenceAllele": "C",
          "start": 237945554
        }
      ],
      "hgvs": [
        "NC_000002.10:g.237945555C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47035,
          "referenceAllele": "G",
          "start": 47034
        }
      ],
      "hgvs": [
        "NG_008676.1:g.47035G=",
        "LRG_473:g.47035G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001161"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3476,
          "referenceAllele": "G",
          "start": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.9:c.3226G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Val1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.9:c.3844G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Val1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.3844G="
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.3844G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Val1282="
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Val1282="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4297,
          "referenceAllele": "G",
          "start": 4296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.8:c.3844G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Val1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2249,
          "referenceAllele": "G",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000347401.7:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315609.4:p.Val675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.8:c.3226G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Val1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2908,
          "referenceAllele": "G",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000392003.6:c.2623G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375860.2:p.Val875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3481,
          "referenceAllele": "G",
          "start": 3480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000392004.7:c.3226G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375861.3:p.Val1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3226,
          "referenceAllele": "G",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000409809.5:c.3226G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386844.1:p.Val1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2249,
          "referenceAllele": "G",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000472056.5:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418285.1:p.Val675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4129,
          "referenceAllele": "G",
          "start": 4128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.3:c.3844G=",
        "LRG_473t1:c.3844G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Val1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2908,
          "referenceAllele": "G",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057164.4:c.2623G="
      ],
      "proteinEffect": {
        "hgvs": "NP_476505.3:p.Val875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057165.4:c.3226G="
      ],
      "proteinEffect": {
        "hgvs": "NP_476506.3:p.Val1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066680036",
      "coordinates": [
        {
          "allele": "G",
          "end": 2308,
          "referenceAllele": "G",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.4:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Val675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.3:c.3226G="
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Val1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3486,
          "referenceAllele": "G",
          "start": 3485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246065.1:c.3244G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246122.1:p.Val1082="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2632,
          "referenceAllele": "G",
          "start": 2631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246066.1:c.2623G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246123.1:p.Val875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_006712253.1:c.3844G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712316.1:p.Val1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510574.1:c.3844G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508876.1:p.Val1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510575.1:c.1438G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508877.1:p.Val480="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2348,
          "referenceAllele": "G",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_017003304.1:c.1438G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016858793.1:p.Val480="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_024452684.1:c.2623G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308452.1:p.Val875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.4:c.3844G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Val1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.3844G="
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.3844G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Val1282="
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Val1282="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2865,
          "referenceAllele": "G",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057164.5:c.2623G="
      ],
      "proteinEffect": {
        "hgvs": "NP_476505.3:p.Val875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3468,
          "referenceAllele": "G",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057165.5:c.3226G="
      ],
      "proteinEffect": {
        "hgvs": "NP_476506.3:p.Val1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066680036",
      "coordinates": [
        {
          "allele": "G",
          "end": 2265,
          "referenceAllele": "G",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.5:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Val675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3468,
          "referenceAllele": "G",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.4:c.3226G="
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Val1076="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729011"
    }
  ],
  "type": "nucleotide"
}