{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4276429",
  "communityStandardTitle": [
    "NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4936358",
        "active": true,
        "id": "COSM4936358"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=303248[alleleid]",
        "alleleId": 303248,
        "preferredName": "NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/360552",
        "RCV": [
          "RCV000360113"
        ],
        "variationId": 360552
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-65439983-C-A",
        "id": "7-65439983-C-A",
        "variant": "7:65439983 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65439983C>A?assembly=hg19",
        "id": "chr7:g.65439983C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65974996C>A?assembly=hg38",
        "id": "chr7:g.65974996C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/561880652",
        "rs": 561880652
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-65439983-C-A?dataset=gnomad_r2_1",
        "id": "7-65439983-C-A",
        "variant": "7:65439983 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-65974996-C-A?dataset=gnomad_r3",
        "id": "7-65974996-C-A",
        "variant": "7:65974996 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-65974996-C-A?dataset=gnomad_r4",
        "id": "7-65974996-C-A",
        "variant": "7:65974996 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65974996,
          "referenceAllele": "C",
          "start": 65974995
        }
      ],
      "hgvs": [
        "NC_000007.14:g.65974996C>A",
        "CM000669.2:g.65974996C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65439983,
          "referenceAllele": "C",
          "start": 65439982
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65439983C>A",
        "CM000669.1:g.65439983C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65077418,
          "referenceAllele": "C",
          "start": 65077417
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65077418C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12319,
          "referenceAllele": "G",
          "start": 12318
        }
      ],
      "hgvs": [
        "NG_016197.1:g.12319G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000304895.9:c.988G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302728.4:p.Ala330Ser",
        "hgvsWellDefined": "ENSP00000302728.4:p.Ala330Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.988G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.988G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Ala330Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Ala330Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000304895.8:c.988G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302728.4:p.Ala330Ser",
        "hgvsWellDefined": "ENSP00000302728.4:p.Ala330Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000421103.5:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391390.1:p.Ala184Ser",
        "hgvsWellDefined": "ENSP00000391390.1:p.Ala184Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000430730.5:c.*255G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411859.1:n.*255G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000447929.5:c.*368G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411262.1:n.*368G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 298,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000465785.5:n.299-292G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000466883.5:n.1165G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 303,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000475316.5:n.304-292G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 188,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000479038.1:n.189-292G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11,
          "referenceAllele": "G",
          "start": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000489482.1:n.11G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645417341",
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_000181.3:c.988G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000172.2:p.Ala330Ser",
        "hgvsWellDefined": "NP_000172.2:p.Ala330Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687680",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.1:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Ala184Ser",
        "hgvsWellDefined": "NP_001271219.1:p.Ala184Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822225",
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.1:c.418G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Ala140Ser",
        "hgvsWellDefined": "NP_001280033.1:p.Ala140Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822462",
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.1:c.331G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Ala111Ser",
        "hgvsWellDefined": "NP_001280034.1:p.Ala111Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.1:n.1119G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_005250297.3:c.913-292G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250354.1:n.913-292G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516113.1:c.487G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514415.1:p.Ala163Ser",
        "hgvsWellDefined": "XP_011514415.1:p.Ala163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516114.1:c.316G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514416.1:p.Ala106Ser",
        "hgvsWellDefined": "XP_011514416.1:p.Ala106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_927461.1:n.1114G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 957,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_005250297.4:c.913-292G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250354.1:n.913-292G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516114.2:c.316G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514416.1:p.Ala106Ser",
        "hgvsWellDefined": "XP_011514416.1:p.Ala106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 787,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012091.1:c.412-292G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867580.1:n.412-292G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 774,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012092.1:c.343-292G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867581.1:n.343-292G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 936,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012093.2:c.241-292G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867582.1:n.241-292G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 957,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744658.2:n.958-292G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744659.2:n.1033G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 957,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744660.2:n.958-292G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "endIntronDirection": "-",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 957,
          "startIntronDirection": "-",
          "startIntronOffset": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744661.2:n.958-292G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_927461.3:n.1033G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645417341",
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_000181.4:c.988G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000172.2:p.Ala330Ser",
        "hgvsWellDefined": "NP_000172.2:p.Ala330Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.988G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.988G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Ala330Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Ala330Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687680",
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Ala184Ser",
        "hgvsWellDefined": "NP_001271219.1:p.Ala184Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822225",
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.418G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Ala140Ser",
        "hgvsWellDefined": "NP_001280033.1:p.Ala140Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822462",
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.331G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Ala111Ser",
        "hgvsWellDefined": "NP_001280034.1:p.Ala111Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.1018G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}