{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2186744842",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.972T= (p.Val324=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28942072",
        "rs": 28942072
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 72349093,
          "referenceAllele": "A",
          "start": 72349092
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72349093A=",
        "CM000677.2:g.72349093A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 72641434,
          "referenceAllele": "A",
          "start": 72641433
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72641434A=",
        "CM000677.1:g.72641434A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 70428488,
          "referenceAllele": "A",
          "start": 70428487
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70428488A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32087,
          "referenceAllele": "T",
          "start": 32086
        }
      ],
      "hgvs": [
        "NG_009017.1:g.32087T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32087,
          "referenceAllele": "T",
          "start": 32086
        }
      ],
      "hgvs": [
        "NG_009017.2:g.32087T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3318,
          "referenceAllele": "T",
          "start": 3317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563908.2:n.3318T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "T",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*634T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*634T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.1015T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:n.1015T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.1078T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.1078T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.1003T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "T",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.*382T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.*382T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "T",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*775T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*775T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "T",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*870T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*870T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.*382T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.*382T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "T",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.1156T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.1156T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683228.1:n.1003T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "T",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.*382T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.*382T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.1003T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "T",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*870T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*870T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.1003T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "T",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*870T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*870T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683742.1:n.803T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "T",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "T",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2810,
          "referenceAllele": "T",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.2810T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.*382T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.*382T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.1420T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.1420T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "T",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*638T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*638T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "T",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.1303T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.1303T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "T",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.972T="
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.972T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Val324="
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Val324="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "T",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 2767,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 2768
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.413-2768T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:n.413-2768T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 958,
          "referenceAllele": "T",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.739-959T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:n.739-959T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1026,
          "referenceAllele": "T",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.1005T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:p.Val335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "referenceAllele": "T",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.*382T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:n.*382T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.844T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "referenceAllele": "T",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 956,
          "referenceAllele": "T",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*493T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*493T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6376,
          "referenceAllele": "T",
          "start": 6375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.6376T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "T",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569410.5:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825207040",
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "T",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825207040",
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826999865",
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "referenceAllele": "T",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.1005T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Val335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1473T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825207040",
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "T",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.972T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Val324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.972T="
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.972T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Val324="
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Val324="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826999865",
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "T",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.1005T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Val335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "T",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.1014T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "T",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.1014T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}