{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA915949588",
  "communityStandardTitle": [
    "NM_000304.4(PMP22):c.78+3G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=791676[alleleid]",
        "alleleId": 791676,
        "preferredName": "NM_000304.4(PMP22):c.78+3G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/803325",
        "RCV": [
          "RCV000989757"
        ],
        "variationId": 803325
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1597635528",
        "rs": 1597635528
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-15260647-C-A?dataset=gnomad_r4",
        "id": "17-15260647-C-A",
        "variant": "17:15260647 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 15260647,
          "referenceAllele": "C",
          "start": 15260646
        }
      ],
      "hgvs": [
        "NC_000017.11:g.15260647C>A",
        "CM000679.2:g.15260647C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 15163964,
          "referenceAllele": "C",
          "start": 15163963
        }
      ],
      "hgvs": [
        "NC_000017.10:g.15163964C>A",
        "CM000679.1:g.15163964C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 15104689,
          "referenceAllele": "C",
          "start": 15104688
        }
      ],
      "hgvs": [
        "NC_000017.9:g.15104689C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9681,
          "referenceAllele": "G",
          "start": 9680
        }
      ],
      "hgvs": [
        "NG_007949.1:g.9681G>T",
        "LRG_263:g.9681G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000717"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000312280.9:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308937.3:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745780",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000312280.9:c.78+3G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000304.4:c.78+3G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308937.3:n.78+3G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000295.1:n.78+3G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 225,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395936.7:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379268.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 271,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395938.7:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379269.3:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000426385.4:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409824.3:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000471150.3:n.270G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 4507,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000494511.7:c.-27+4507G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462782.2:n.-27+4507G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 1453,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000580584.3:c.-126-1454G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464468.3:n.-126-1454G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000612492.5:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484631.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000643451.2:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494628.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 140,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000644020.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496522.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000646419.2:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494871.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674651.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501727.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674673.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501804.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "endIntronDirection": "+",
          "endIntronOffset": 1782,
          "referenceAllele": "G",
          "start": 116,
          "startIntronDirection": "+",
          "startIntronOffset": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674707.1:c.-27+1782G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502250.1:n.-27+1782G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674868.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502835.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674947.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501580.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 448,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675350.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501557.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 112,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675551.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501945.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 511,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675808.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502310.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675819.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502018.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 1453,
          "referenceAllele": "G",
          "start": 124,
          "startIntronDirection": "-",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675854.1:c.-126-1454G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502324.1:n.-126-1454G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 252,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675950.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501546.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 189,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676161.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501766.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 281,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676221.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502601.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 112,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676329.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501698.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 266,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000312280.7:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308937.3:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 225,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395936.5:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379268.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395938.6:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379269.2:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000426385.3:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409824.3:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000471150.2:n.270G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "endIntronDirection": "+",
          "endIntronOffset": 4507,
          "referenceAllele": "G",
          "start": 166,
          "startIntronDirection": "+",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000494511.5:c.-2+4507G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462782.1:n.-2+4507G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000580497.1:n.119+3G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 1453,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000580584.1:c.-101-1454G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464468.1:n.-101-1454G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000612492.4:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484631.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_000304.3:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000295.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281455.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268384.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281456.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268385.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153321.2:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_696996.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 195,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153322.2:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_696997.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "endIntronDirection": "-",
          "endIntronOffset": 1453,
          "referenceAllele": "G",
          "start": 204,
          "startIntronDirection": "-",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104017.1:n.205-1454G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "endIntronDirection": "+",
          "endIntronOffset": 4507,
          "referenceAllele": "G",
          "start": 204,
          "startIntronDirection": "+",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104018.1:n.204+4507G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "XM_011523943.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522245.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001330143.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317072.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "XM_024450806.1:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306574.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_000304.4:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000295.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000312280.9:c.78+3G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000304.4:c.78+3G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308937.3:n.78+3G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000295.1:n.78+3G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 281,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281456.2:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268385.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001330143.2:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317072.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153321.3:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_696996.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 171,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153322.3:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_696997.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 1453,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104017.2:n.174-1454G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 4507,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104018.2:n.173+4507G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 240,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281455.2:c.78+3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268384.1:n.78+3G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715696"
    }
  ],
  "type": "nucleotide"
}