{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2186746501",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.532C= (p.Arg178=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121907953",
        "rs": 121907953
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72353106,
          "referenceAllele": "G",
          "start": 72353105
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72353106G=",
        "CM000677.2:g.72353106G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72645447,
          "referenceAllele": "G",
          "start": 72645446
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72645447G=",
        "CM000677.1:g.72645447G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 70432501,
          "referenceAllele": "G",
          "start": 70432500
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70432501G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28074,
          "referenceAllele": "C",
          "start": 28073
        }
      ],
      "hgvs": [
        "NG_009017.1:g.28074C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28074,
          "referenceAllele": "C",
          "start": 28073
        }
      ],
      "hgvs": [
        "NG_009017.2:g.28074C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2878,
          "referenceAllele": "C",
          "start": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563908.2:n.2878C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568260.2:c.552C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458128.2:n.552C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*194C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*194C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 676,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 676,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.677-1872C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.677-1872C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.563C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 272,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.254-1872C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.254-1872C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "C",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*335C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*430C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*430C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.413-1872C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.413-1872C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.716C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.716C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683228.1:n.563C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 431,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.413-1872C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.413-1872C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.563C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*430C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*430C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.563C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*430C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*430C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2370,
          "referenceAllele": "C",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.2370C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 432,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.413-1872C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.413-1872C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.980C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.980C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*237-1872C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*237-1872C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.863C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.863C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.532C="
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.532C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Arg178="
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Arg178="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 2453,
          "referenceAllele": "C",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 2452
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.412+2453C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:n.412+2453C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.504-1872C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:n.504-1872C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.565C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:p.Arg189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.413-1872C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:n.413-1872C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.404C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*53C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*53C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568260.1:c.533C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5936,
          "referenceAllele": "C",
          "start": 5935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.5936C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569410.5:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "endIntronDirection": "-",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 417,
          "startIntronDirection": "-",
          "startIntronOffset": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569509.5:n.418-1872C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081911153",
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081911153",
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.565C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Arg189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1033C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081911153",
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.532C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Arg178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.532C="
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.532C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Arg178="
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Arg178="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.565C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Arg189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.574C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.574C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}