{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16618693",
  "communityStandardTitle": [
    "NM_018972.4(GDAP1):c.308A>T (p.Asp103Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407454[alleleid]",
        "alleleId": 407454,
        "preferredName": "NM_018972.4(GDAP1):c.308A>T (p.Asp103Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418230",
        "RCV": [
          "RCV000486366"
        ],
        "variationId": 418230
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.75263699A>T?assembly=hg19",
        "id": "chr8:g.75263699A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.74351464A>T?assembly=hg38",
        "id": "chr8:g.74351464A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793135",
        "rs": 1064793135
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-74351464-A-T?dataset=gnomad_r4",
        "id": "8-74351464-A-T",
        "variant": "8:74351464 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 74351464,
          "referenceAllele": "A",
          "start": 74351463
        }
      ],
      "hgvs": [
        "NC_000008.11:g.74351464A>T",
        "CM000670.2:g.74351464A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 75263699,
          "referenceAllele": "A",
          "start": 75263698
        }
      ],
      "hgvs": [
        "NC_000008.10:g.75263699A>T",
        "CM000670.1:g.75263699A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 75426254,
          "referenceAllele": "A",
          "start": 75426253
        }
      ],
      "hgvs": [
        "NC_000008.9:g.75426254A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35335,
          "referenceAllele": "A",
          "start": 35334
        }
      ],
      "hgvs": [
        "NG_008787.2:g.35335A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35335,
          "referenceAllele": "A",
          "start": 35334
        }
      ],
      "hgvs": [
        "NG_008787.3:g.35335A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616113"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000220822.12:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220822.7:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000220822.7:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220822.12:c.308A>T"
          },
          "RefSeq": {
            "hgvs": "NM_018972.4:c.308A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220822.7:p.Asp103Val"
          },
          "RefSeq": {
            "hgvs": "NP_061845.2:p.Asp103Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000434412.3:c.176A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417006.3:p.Asp59Val",
        "hgvsWellDefined": "ENSP00000417006.3:p.Asp59Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "A",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000520797.6:n.419A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "endIntronDirection": "-",
          "endIntronOffset": 10419,
          "referenceAllele": "A",
          "start": 340,
          "startIntronDirection": "-",
          "startIntronOffset": 10420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000521096.6:n.341-10420A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 211,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000522568.2:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430136.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000523640.2:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502017.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524195.2:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502308.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 344,
          "referenceAllele": "A",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524366.6:n.344A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "A",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674612.1:c.-17-8673A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501864.1:n.-17-8673A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674710.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502762.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000502762.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674754.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502063.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 193,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674756.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501860.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674806.1:c.-18+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502637.1:n.-18+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "referenceAllele": "A",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674865.1:c.104A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502437.1:p.Asp35Val",
        "hgvsWellDefined": "ENSP00000502437.1:p.Asp35Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674926.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501799.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "endIntronDirection": "+",
          "endIntronOffset": 46,
          "referenceAllele": "A",
          "start": 328,
          "startIntronDirection": "+",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674934.1:c.262+46A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502187.1:n.262+46A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674944.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501858.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674946.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501569.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000501569.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674973.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502447.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 183,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675007.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502119.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675060.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501616.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675165.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502612.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000502612.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "A",
          "start": 166,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675220.1:c.-17-8673A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502588.1:n.-17-8673A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675265.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501848.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675336.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502120.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "A",
          "start": 317,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675376.1:c.-17-8673A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502838.1:n.-17-8673A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "A",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675463.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502327.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000502327.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "A",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675472.1:c.117+886A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501946.1:n.117+886A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675560.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502118.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "A",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675565.1:n.125A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675625.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501626.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675633.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501785.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000501785.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 183,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675661.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501958.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "A",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675706.1:n.375A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "A",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675821.1:c.-17-8673A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502198.1:n.-17-8673A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "A",
          "start": 176,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675832.1:c.117+886A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502041.1:n.117+886A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "A",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675928.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501568.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000501568.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675944.1:c.104A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502673.1:p.Asp35Val",
        "hgvsWellDefined": "ENSP00000502673.1:p.Asp35Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675999.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502572.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000502572.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676049.1:c.*210A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501912.1:n.*210A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "A",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676112.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502295.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000502295.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 181,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676120.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502036.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "A",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676143.1:c.-17-8673A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502828.1:n.-17-8673A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "A",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676207.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502638.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000502638.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "A",
          "start": 87,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676377.1:c.-17-8673A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502756.1:n.-17-8673A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676415.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502665.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000502665.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "A",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676443.1:c.260A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501769.1:p.Asp87Val",
        "hgvsWellDefined": "ENSP00000501769.1:p.Asp87Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "A",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000220822.11:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220822.7:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000220822.7:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "referenceAllele": "A",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000434412.2:c.104A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417006.2:p.Asp35Val",
        "hgvsWellDefined": "ENSP00000417006.2:p.Asp35Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 75,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "A",
          "start": 75,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000520797.5:n.76-8673A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "A",
          "start": 116,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000521096.5:n.117-8673A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 183,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000522568.1:c.165+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430136.1:n.165+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "A",
          "start": 145,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000523640.1:n.145+886A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524366.5:n.326A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915959184",
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "A",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.2:c.104A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:p.Asp35Val",
        "hgvsWellDefined": "NP_001035808.1:p.Asp35Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645414048",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.2:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:p.Asp103Val",
        "hgvsWellDefined": "NP_061845.2:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 244,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NR_046346.1:n.244+143A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1519,
          "referenceAllele": "A",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "XM_011517551.1:c.776A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515853.1:p.Asp259Val",
        "hgvsWellDefined": "XP_011515853.1:p.Asp259Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "A",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "XM_011517552.1:c.-18+886A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515854.1:n.-18+886A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915959184",
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "A",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.3:c.104A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:p.Asp35Val",
        "hgvsWellDefined": "NP_001035808.1:p.Asp35Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 244,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362929.1:c.-18+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349858.1:n.-18+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828071831",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362930.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349859.1:p.Asp103Val",
        "hgvsWellDefined": "NP_001349859.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828072087",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349860.1:p.Asp103Val",
        "hgvsWellDefined": "NP_001349860.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "A",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362932.1:c.-18+886A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349861.1:n.-18+886A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645414048",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.3:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:p.Asp103Val",
        "hgvsWellDefined": "NP_061845.2:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "XM_017013586.2:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869075.2:p.Asp103Val",
        "hgvsWellDefined": "XP_016869075.2:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828072087",
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.2:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349860.1:p.Asp103Val",
        "hgvsWellDefined": "NP_001349860.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645414048",
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.4:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:p.Asp103Val",
        "hgvsWellDefined": "NP_061845.2:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698118",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220822.12:c.308A>T"
          },
          "RefSeq": {
            "hgvs": "NM_018972.4:c.308A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220822.7:p.Asp103Val"
          },
          "RefSeq": {
            "hgvs": "NP_061845.2:p.Asp103Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915959184",
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "referenceAllele": "A",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.4:c.104A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:p.Asp35Val",
        "hgvsWellDefined": "NP_001035808.1:p.Asp35Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362929.2:c.-18+143A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349858.1:n.-18+143A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828071831",
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362930.2:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349859.1:p.Asp103Val",
        "hgvsWellDefined": "NP_001349859.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "A",
          "start": 176,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362932.2:c.-18+886A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349861.1:n.-18+886A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720679"
    }
  ],
  "type": "nucleotide"
}