{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1794116424",
  "communityStandardTitle": [
    "NM_018972.4(GDAP1):c.821C= (p.Pro274=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515443",
        "rs": 397515443
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 74364111,
          "referenceAllele": "C",
          "start": 74364110
        }
      ],
      "hgvs": [
        "NC_000008.11:g.74364111C=",
        "CM000670.2:g.74364111C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 75276346,
          "referenceAllele": "C",
          "start": 75276345
        }
      ],
      "hgvs": [
        "NC_000008.10:g.75276346C=",
        "CM000670.1:g.75276346C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 75438901,
          "referenceAllele": "C",
          "start": 75438900
        }
      ],
      "hgvs": [
        "NC_000008.9:g.75438901C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47982,
          "referenceAllele": "C",
          "start": 47981
        }
      ],
      "hgvs": [
        "NG_008787.2:g.47982C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47982,
          "referenceAllele": "C",
          "start": 47981
        }
      ],
      "hgvs": [
        "NG_008787.3:g.47982C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616113"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000220822.12:c.821C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220822.7:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220822.12:c.821C="
          },
          "RefSeq": {
            "hgvs": "NM_018972.4:c.821C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220822.7:p.Pro274="
          },
          "RefSeq": {
            "hgvs": "NP_061845.2:p.Pro274="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000434412.3:c.689C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417006.3:p.Pro230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000520797.6:n.932C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000521096.6:n.677C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000522568.2:c.*493C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430136.1:n.*493C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 12790,
          "referenceAllele": "C",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 12789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000523640.2:c.165+12790C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502017.1:n.165+12790C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524195.2:c.280+1058C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502308.1:n.280+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674612.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501864.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674710.1:c.694+1058C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502762.1:n.694+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674754.1:c.*2384C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502063.1:n.*2384C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674756.1:c.*366+1058C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501860.1:n.*366+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674806.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502637.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774717"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674865.1:c.617C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502437.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674926.1:c.*1453C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501799.1:n.*1453C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 839,
          "referenceAllele": "C",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674934.1:c.*509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502187.1:n.*509C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1666,
          "referenceAllele": "C",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674944.1:c.*1424C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501858.1:n.*1424C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 712,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 712,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674946.1:c.694+1058C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501569.1:n.694+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674973.1:c.515C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502447.1:p.Pro172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675007.1:c.*559C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502119.1:n.*559C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675060.1:c.*486C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501616.1:n.*486C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675165.1:c.818C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502612.1:p.Pro273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675220.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502588.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675265.1:c.*571C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501848.1:n.*571C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675336.1:c.*307C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502120.1:n.*307C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "referenceAllele": "C",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675376.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502838.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675463.1:c.899C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502327.1:p.Pro300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675472.1:c.*307C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501946.1:n.*307C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675474.1:n.406C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 608,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675560.1:c.*366+1058C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502118.1:n.*366+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675625.1:c.*493C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501626.1:n.*493C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675633.1:c.*228C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501785.1:n.*228C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675661.1:c.*581C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501958.1:n.*581C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2779,
          "referenceAllele": "C",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675706.1:n.2779C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675821.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502198.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675832.1:c.*493C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502041.1:n.*493C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675928.1:c.647C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501568.1:p.Pro216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675944.1:c.617C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502673.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 753,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 753,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675999.1:c.694+1058C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502572.1:n.694+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "C",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676049.1:c.*723C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501912.1:n.*723C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676112.1:c.887C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502295.1:p.Pro296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676143.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502828.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676207.1:c.694+1058C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502638.1:n.694+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676377.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502756.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676415.1:c.*127C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502665.1:n.*127C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676443.1:c.773C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501769.1:p.Pro258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000220822.11:c.821C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220822.7:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000434412.2:c.617C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417006.2:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000520797.5:n.586C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000521096.5:n.627C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000522568.1:c.*493C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430136.1:n.*493C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 103,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524195.1:n.103+1058C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.2:c.617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074776261",
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.2:c.821C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NR_046346.1:n.755C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "XM_011517551.1:c.1115C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515853.1:p.Pro372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "XM_011517552.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515854.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.3:c.617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362929.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349858.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362930.1:c.647C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349859.1:p.Pro216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 773,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 773,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.1:c.694+1058C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349860.1:n.694+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362932.1:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349861.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074776261",
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.3:c.821C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 753,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "C",
          "start": 753,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.2:c.694+1058C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349860.1:n.694+1058C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074776261",
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.4:c.821C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698118",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220822.12:c.821C="
          },
          "RefSeq": {
            "hgvs": "NM_018972.4:c.821C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220822.7:p.Pro274="
          },
          "RefSeq": {
            "hgvs": "NP_061845.2:p.Pro274="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.4:c.617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362929.2:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349858.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362930.2:c.647C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349859.1:p.Pro216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362932.2:c.494C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349861.1:p.Pro165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720679"
    }
  ],
  "type": "nucleotide"
}