{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609403",
  "communityStandardTitle": [
    "NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=384422[alleleid]",
        "alleleId": 384422,
        "preferredName": "NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/397529",
        "RCV": [
          "RCV000449526"
        ],
        "variationId": 397529
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.108861296A>G?assembly=hg19",
        "id": "chr13:g.108861296A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.108208948A>G?assembly=hg38",
        "id": "chr13:g.108208948A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499662",
        "rs": 1060499662
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-108208948-A-G?dataset=gnomad_r4",
        "id": "13-108208948-A-G",
        "variant": "13:108208948 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 108208948,
          "referenceAllele": "A",
          "start": 108208947
        }
      ],
      "hgvs": [
        "NC_000013.11:g.108208948A>G",
        "CM000675.2:g.108208948A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 108861296,
          "referenceAllele": "A",
          "start": 108861295
        }
      ],
      "hgvs": [
        "NC_000013.10:g.108861296A>G",
        "CM000675.1:g.108861296A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 107659297,
          "referenceAllele": "A",
          "start": 107659296
        }
      ],
      "hgvs": [
        "NC_000013.9:g.107659297A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11587,
          "referenceAllele": "T",
          "start": 11586
        }
      ],
      "hgvs": [
        "NG_007396.1:g.11587T>C",
        "LRG_79:g.11587T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000564"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2422,
          "referenceAllele": "T",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000614526.2:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480814.1:p.Leu707Pro",
        "hgvsWellDefined": "ENSP00000480814.1:p.Leu707Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2687,
          "referenceAllele": "T",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000685338.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510567.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000510567.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2557,
          "referenceAllele": "T",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000686095.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509942.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509942.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5372,
          "referenceAllele": "T",
          "start": 5371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000686204.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509685.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509685.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2663,
          "referenceAllele": "T",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000686913.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509299.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509299.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2433,
          "referenceAllele": "T",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000686926.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509122.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509122.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2508,
          "referenceAllele": "T",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000687164.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508512.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000508512.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4313,
          "referenceAllele": "T",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000687822.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509344.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509344.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2930,
          "referenceAllele": "T",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000688396.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509564.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509564.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2860,
          "referenceAllele": "T",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000688455.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509304.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509304.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2608,
          "referenceAllele": "T",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000688529.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509906.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509906.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2906,
          "referenceAllele": "T",
          "start": 2905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000688595.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509502.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509502.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831712"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2521,
          "referenceAllele": "T",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000689762.1:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508867.1:p.Leu707Pro",
        "hgvsWellDefined": "ENSP00000508867.1:p.Leu707Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2514,
          "referenceAllele": "T",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000690127.1:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509468.1:p.Leu707Pro",
        "hgvsWellDefined": "ENSP00000509468.1:p.Leu707Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5270,
          "referenceAllele": "T",
          "start": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000692222.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509226.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000509226.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2438,
          "referenceAllele": "T",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000693040.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510014.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000510014.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2475,
          "referenceAllele": "T",
          "start": 2474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000442234.6:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402030.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000402030.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442234.6:c.2321T>C"
          },
          "RefSeq": {
            "hgvs": "NM_206937.2:c.2321T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000402030.1:p.Leu774Pro"
          },
          "RefSeq": {
            "hgvs": "NP_996820.1:p.Leu774Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2594,
          "referenceAllele": "T",
          "start": 2593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000356922.5:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349393.3:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000349393.3:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2556,
          "referenceAllele": "T",
          "start": 2555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000405925.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385955.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000385955.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2473,
          "referenceAllele": "T",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000442234.5:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402030.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000402030.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2671,
          "referenceAllele": "T",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000611712.4:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484288.1:p.Leu774Pro",
        "hgvsWellDefined": "ENSP00000484288.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2382,
          "referenceAllele": "T",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "ENST00000614526.1:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480814.1:p.Leu707Pro",
        "hgvsWellDefined": "ENSP00000480814.1:p.Leu707Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825526181",
      "coordinates": [
        {
          "allele": "C",
          "end": 2556,
          "referenceAllele": "T",
          "start": 2555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001098268.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091738.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001091738.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477995",
      "coordinates": [
        {
          "allele": "C",
          "end": 2594,
          "referenceAllele": "T",
          "start": 2593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_002312.3:c.2321T>C",
        "LRG_79t1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002303.2:p.Leu774Pro",
        "hgvsWellDefined": "NP_002303.2:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830522681",
      "coordinates": [
        {
          "allele": "C",
          "end": 2473,
          "referenceAllele": "T",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_206937.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_996820.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_996820.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2438,
          "referenceAllele": "T",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_005254056.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254113.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_005254113.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2590,
          "referenceAllele": "T",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_005254057.3:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254114.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_005254114.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4046,
          "referenceAllele": "T",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_005254058.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254115.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_005254115.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4227,
          "referenceAllele": "T",
          "start": 4226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_006719951.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720014.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_006720014.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2906,
          "referenceAllele": "T",
          "start": 2905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_006719952.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720015.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_006720015.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2880,
          "referenceAllele": "T",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_011521091.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519393.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_011519393.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2441,
          "referenceAllele": "T",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_011521092.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519394.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_011519394.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088256"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334152",
      "coordinates": [
        {
          "allele": "C",
          "end": 2393,
          "referenceAllele": "T",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001330595.1:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317524.1:p.Leu707Pro",
        "hgvsWellDefined": "NP_001317524.1:p.Leu707Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827659809",
      "coordinates": [
        {
          "allele": "C",
          "end": 2973,
          "referenceAllele": "T",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352598.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339527.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339527.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827660389",
      "coordinates": [
        {
          "allele": "C",
          "end": 2997,
          "referenceAllele": "T",
          "start": 2996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352599.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339528.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339528.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521026"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827660969",
      "coordinates": [
        {
          "allele": "C",
          "end": 2889,
          "referenceAllele": "T",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352600.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339529.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339529.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827661549",
      "coordinates": [
        {
          "allele": "C",
          "end": 2608,
          "referenceAllele": "T",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352601.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339530.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339530.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827662130",
      "coordinates": [
        {
          "allele": "C",
          "end": 2500,
          "referenceAllele": "T",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352602.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339531.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339531.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521029"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827662709",
      "coordinates": [
        {
          "allele": "C",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352603.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339532.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339532.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035495",
      "coordinates": [
        {
          "allele": "C",
          "end": 2528,
          "referenceAllele": "T",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352604.1:c.2357T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339533.1:p.Leu786Pro",
        "hgvsWellDefined": "NP_001339533.1:p.Leu786Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4282,
          "referenceAllele": "T",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_005254058.4:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254115.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_005254115.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4313,
          "referenceAllele": "T",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_006719951.3:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720014.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_006720014.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2581,
          "referenceAllele": "T",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_017020564.1:c.2357T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876053.1:p.Leu786Pro",
        "hgvsWellDefined": "XP_016876053.1:p.Leu786Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2952,
          "referenceAllele": "T",
          "start": 2951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_017020565.1:c.2357T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876054.1:p.Leu786Pro",
        "hgvsWellDefined": "XP_016876054.1:p.Leu786Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2855,
          "referenceAllele": "T",
          "start": 2854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_017020566.1:c.2357T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876055.1:p.Leu786Pro",
        "hgvsWellDefined": "XP_016876055.1:p.Leu786Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4359,
          "referenceAllele": "T",
          "start": 4358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_017020568.2:c.2333T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876057.1:p.Leu778Pro",
        "hgvsWellDefined": "XP_016876057.1:p.Leu778Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4660,
          "referenceAllele": "T",
          "start": 4659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_017020571.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876060.1:p.Leu774Pro",
        "hgvsWellDefined": "XP_016876060.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2357,
          "referenceAllele": "T",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "XM_017020573.1:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876062.1:p.Leu707Pro",
        "hgvsWellDefined": "XP_016876062.1:p.Leu707Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825526181",
      "coordinates": [
        {
          "allele": "C",
          "end": 2537,
          "referenceAllele": "T",
          "start": 2536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001098268.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091738.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001091738.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827659809",
      "coordinates": [
        {
          "allele": "C",
          "end": 2954,
          "referenceAllele": "T",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352598.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339527.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339527.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827660389",
      "coordinates": [
        {
          "allele": "C",
          "end": 2978,
          "referenceAllele": "T",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352599.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339528.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339528.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827660969",
      "coordinates": [
        {
          "allele": "C",
          "end": 2870,
          "referenceAllele": "T",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352600.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339529.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339529.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827661549",
      "coordinates": [
        {
          "allele": "C",
          "end": 2579,
          "referenceAllele": "T",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352601.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339530.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339530.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827662130",
      "coordinates": [
        {
          "allele": "C",
          "end": 2471,
          "referenceAllele": "T",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352602.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339531.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001339531.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689318"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830522681",
      "coordinates": [
        {
          "allele": "C",
          "end": 2475,
          "referenceAllele": "T",
          "start": 2474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_206937.2:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_996820.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_996820.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442234.6:c.2321T>C"
          },
          "RefSeq": {
            "hgvs": "NM_206937.2:c.2321T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000402030.1:p.Leu774Pro"
          },
          "RefSeq": {
            "hgvs": "NP_996820.1:p.Leu774Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334152",
      "coordinates": [
        {
          "allele": "C",
          "end": 2395,
          "referenceAllele": "T",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001330595.2:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317524.1:p.Leu707Pro",
        "hgvsWellDefined": "NP_001317524.1:p.Leu707Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035495",
      "coordinates": [
        {
          "allele": "C",
          "end": 2499,
          "referenceAllele": "T",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001352604.2:c.2357T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339533.1:p.Leu786Pro",
        "hgvsWellDefined": "NP_001339533.1:p.Leu786Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828807847",
      "coordinates": [
        {
          "allele": "C",
          "end": 2672,
          "referenceAllele": "T",
          "start": 2671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NM_001379095.1:c.2321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366024.1:p.Leu774Pro",
        "hgvsWellDefined": "NP_001366024.1:p.Leu774Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721905"
    }
  ],
  "type": "nucleotide"
}