{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA398739509",
  "communityStandardTitle": [
    "NM_000304.4(PMP22):c.445A>C (p.Ser149Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.15134272T>G?assembly=hg19",
        "id": "chr17:g.15134272T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.15230955T>G?assembly=hg38",
        "id": "chr17:g.15230955T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 15230955,
          "referenceAllele": "T",
          "start": 15230954
        }
      ],
      "hgvs": [
        "NC_000017.11:g.15230955T>G",
        "CM000679.2:g.15230955T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 15134272,
          "referenceAllele": "T",
          "start": 15134271
        }
      ],
      "hgvs": [
        "NC_000017.10:g.15134272T>G",
        "CM000679.1:g.15134272T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 15074997,
          "referenceAllele": "T",
          "start": 15074996
        }
      ],
      "hgvs": [
        "NC_000017.9:g.15074997T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39373,
          "referenceAllele": "A",
          "start": 39372
        }
      ],
      "hgvs": [
        "NG_007949.1:g.39373A>C",
        "LRG_263:g.39373A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000717"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000312280.9:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308937.3:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000308937.3:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745780",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000312280.9:c.445A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000304.4:c.445A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308937.3:p.Ser149Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000295.1:p.Ser149Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395936.7:c.*154A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379268.1:n.*154A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "A",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395938.7:c.434A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379269.3:p.Gln145Pro",
        "hgvsWellDefined": "ENSP00000379269.3:p.Gln145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000494511.7:c.241A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462782.2:p.Ser81Arg",
        "hgvsWellDefined": "ENSP00000462782.2:p.Ser81Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "A",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000580584.3:c.241A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464468.3:p.Ser81Arg",
        "hgvsWellDefined": "ENSP00000464468.3:p.Ser81Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000612492.5:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484631.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000484631.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "referenceAllele": "A",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000643451.2:c.*300A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494628.1:n.*300A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "A",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000644020.1:c.*154A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496522.1:n.*154A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "referenceAllele": "A",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000646419.2:c.*154A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494871.1:n.*154A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "referenceAllele": "A",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674651.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501727.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000501727.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "referenceAllele": "A",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674673.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501804.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000501804.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "A",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674707.1:c.241A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502250.1:p.Ser81Arg",
        "hgvsWellDefined": "ENSP00000502250.1:p.Ser81Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "referenceAllele": "A",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674868.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502835.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000502835.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "A",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674871.1:n.461A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000674947.1:c.434A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501580.1:p.Gln145Pro",
        "hgvsWellDefined": "ENSP00000501580.1:p.Gln145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 425,
          "referenceAllele": "A",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675197.1:n.425A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "A",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675350.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501557.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000501557.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675551.1:c.*114A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501945.1:n.*114A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "A",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675808.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502310.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000502310.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "A",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675819.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502018.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000502018.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675854.1:c.241A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502324.1:p.Ser81Arg",
        "hgvsWellDefined": "ENSP00000502324.1:p.Ser81Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 619,
          "referenceAllele": "A",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000675950.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501546.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000501546.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676002.1:n.438A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "referenceAllele": "A",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676161.1:c.304A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501766.1:p.Ser102Arg",
        "hgvsWellDefined": "ENSP00000501766.1:p.Ser102Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "A",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676221.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502601.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000502601.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "referenceAllele": "A",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000676329.1:c.547A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501698.1:p.Ser183Arg",
        "hgvsWellDefined": "ENSP00000501698.1:p.Ser183Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "A",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000312280.7:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308937.3:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000308937.3:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395936.5:c.*154A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379268.1:n.*154A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000395938.6:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379269.2:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000379269.2:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "A",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000494511.5:c.266A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462782.1:p.Gln89Pro",
        "hgvsWellDefined": "ENSP00000462782.1:p.Gln89Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "ENST00000612492.4:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484631.1:p.Ser149Arg",
        "hgvsWellDefined": "ENSP00000484631.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110362",
      "coordinates": [
        {
          "allele": "C",
          "end": 683,
          "referenceAllele": "A",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_000304.3:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000295.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_000295.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826623541",
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281455.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268384.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_001268384.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826623750",
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "A",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281456.1:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268385.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_001268385.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830323432",
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153321.2:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_696996.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_696996.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645394320",
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "referenceAllele": "A",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153322.2:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_696997.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_696997.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "referenceAllele": "A",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104017.1:n.571A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104018.1:n.471A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053141"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110362",
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_000304.4:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000295.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_000295.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000312280.9:c.445A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000304.4:c.445A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308937.3:p.Ser149Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000295.1:p.Ser149Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826623750",
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "A",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281456.2:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268385.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_001268385.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830323432",
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "A",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153321.3:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_696996.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_696996.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645394320",
      "coordinates": [
        {
          "allele": "C",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_153322.3:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_696997.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_696997.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "A",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104017.2:n.540A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NR_104018.2:n.440A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826623541",
      "coordinates": [
        {
          "allele": "C",
          "end": 607,
          "referenceAllele": "A",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NM_001281455.2:c.445A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268384.1:p.Ser149Arg",
        "hgvsWellDefined": "NP_001268384.1:p.Ser149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715696"
    }
  ],
  "type": "nucleotide"
}