{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2249505922",
  "communityStandardTitle": [
    "NM_000304.4(PMP22):c.215C= (p.Ser72=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894621",
        "rs": 104894621
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 15239575,
          "referenceAllele": "G",
          "start": 15239574
        }
      ],
      "hgvs": [
        "NC_000017.11:g.15239575G=",
        "CM000679.2:g.15239575G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 15142892,
          "referenceAllele": "G",
          "start": 15142891
        }
      ],
      "hgvs": [
        "NC_000017.10:g.15142892G=",
        "CM000679.1:g.15142892G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 15083617,
          "referenceAllele": "G",
          "start": 15083616
        }
      ],
      "hgvs": [
        "NC_000017.9:g.15083617G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30753,
          "referenceAllele": "C",
          "start": 30752
        }
      ],
      "hgvs": [
        "NG_007949.1:g.30753C=",
        "LRG_263:g.30753C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000717"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000312280.9:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308937.3:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745780",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000312280.9:c.215C="
          },
          "RefSeq": {
            "hgvs": "NM_000304.4:c.215C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308937.3:p.Ser72="
          },
          "RefSeq": {
            "hgvs": "NP_000295.1:p.Ser72="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395936.7:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379268.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395938.7:c.204C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379269.3:p.Val68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000426385.4:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409824.3:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210,
          "referenceAllele": "C",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000494511.7:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462782.2:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000580584.3:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464468.3:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000612492.5:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484631.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000643451.2:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494628.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000644020.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496522.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "referenceAllele": "C",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000646419.2:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494871.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674651.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501727.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674673.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501804.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674707.1:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502250.1:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674868.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502835.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "referenceAllele": "C",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674871.1:n.231C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674947.1:c.204C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501580.1:p.Val68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675197.1:n.195C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675350.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501557.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675551.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501945.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675808.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502310.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675819.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502018.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675854.1:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502324.1:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675950.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501546.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "endIntronDirection": "-",
          "endIntronOffset": 8494,
          "referenceAllele": "C",
          "start": 289,
          "startIntronDirection": "-",
          "startIntronOffset": 8495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676161.1:c.179-8495C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501766.1:n.179-8495C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676221.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502601.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676329.1:c.317C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501698.1:p.Ser106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000312280.7:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308937.3:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395936.5:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379268.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395938.6:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379269.2:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "referenceAllele": "C",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000426385.3:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409824.3:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000494511.5:c.36C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462782.1:p.Val12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000580584.1:c.36C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464468.1:p.Val12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000612492.4:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484631.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825114491",
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_000304.3:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000295.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826623433",
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281455.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268384.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826623640",
      "coordinates": [
        {
          "allele": "C",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281456.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268385.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830323161",
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153321.2:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_696996.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830323756",
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153322.2:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_696997.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104017.1:n.341C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104018.1:n.241C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "XM_011523943.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522245.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827328766",
      "coordinates": [
        {
          "allele": "C",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001330143.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317072.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "XM_024450806.1:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306574.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825114491",
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_000304.4:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000295.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000312280.9:c.215C="
          },
          "RefSeq": {
            "hgvs": "NM_000304.4:c.215C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308937.3:p.Ser72="
          },
          "RefSeq": {
            "hgvs": "NP_000295.1:p.Ser72="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826623640",
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281456.2:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268385.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827328766",
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001330143.2:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317072.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830323161",
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153321.3:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_696996.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830323756",
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153322.3:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_696997.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104017.2:n.310C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210,
          "referenceAllele": "C",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104018.2:n.210C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826623433",
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281455.2:c.215C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268384.1:p.Ser72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715696"
    }
  ],
  "type": "nucleotide"
}