{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA221386",
  "communityStandardTitle": [
    "NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1207959",
        "active": true,
        "id": "COSM1207959"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19365[alleleid]",
        "alleleId": 19365,
        "preferredName": "NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4326",
        "RCV": [
          "RCV000004570",
          "RCV000585360",
          "RCV000780288",
          "RCV001249081",
          "RCV002490309"
        ],
        "variationId": 4326
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155206068G>A?assembly=hg19",
        "id": "chr1:g.155206068G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155236277G>A?assembly=hg38",
        "id": "chr1:g.155236277G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908309",
        "rs": 121908309
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155206068-G-A?dataset=gnomad_r2_1",
        "id": "1-155206068-G-A",
        "variant": "1:155206068 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155236277-G-A?dataset=gnomad_r4",
        "id": "1-155236277-G-A",
        "variant": "1:155236277 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155236277,
          "referenceAllele": "G",
          "start": 155236276
        }
      ],
      "hgvs": [
        "NC_000001.11:g.155236277G>A",
        "CM000663.2:g.155236277G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155206068,
          "referenceAllele": "G",
          "start": 155206067
        }
      ],
      "hgvs": [
        "NC_000001.10:g.155206068G>A",
        "CM000663.1:g.155206068G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 153472692,
          "referenceAllele": "G",
          "start": 153472691
        }
      ],
      "hgvs": [
        "NC_000001.9:g.153472692G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13421,
          "referenceAllele": "C",
          "start": 13420
        }
      ],
      "hgvs": [
        "NG_009783.1:g.13421C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000368373.8:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357357.3:p.Arg398Ter",
        "hgvsWellDefined": "ENSP00000357357.3:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368373.8:c.1192C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000157.4:c.1192C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357357.3:p.Arg398Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000148.2:p.Arg398Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1425,
          "referenceAllele": "C",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000327247.9:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314508.5:p.Arg398Ter",
        "hgvsWellDefined": "ENSP00000314508.5:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000368373.7:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357357.3:p.Arg398Ter",
        "hgvsWellDefined": "ENSP00000357357.3:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000427500.7:c.1045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402577.2:p.Arg349Ter",
        "hgvsWellDefined": "ENSP00000402577.2:p.Arg349_Gln487delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000428024.3:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397986.2:p.Arg311Ter",
        "hgvsWellDefined": "ENSP00000397986.2:p.Arg311_Gln449delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "C",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000478472.1:n.183C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000484489.5:n.351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000491081.5:n.797C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825068859",
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_000157.3:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000148.2:p.Arg398Ter",
        "hgvsWellDefined": "NP_000148.2:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA221387",
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005741.2:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005741.1:p.Arg398Ter",
        "hgvsWellDefined": "NP_001005741.1:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954984",
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005742.2:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005742.1:p.Arg398Ter",
        "hgvsWellDefined": "NP_001005742.1:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088699",
      "coordinates": [
        {
          "allele": "T",
          "end": 1434,
          "referenceAllele": "C",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171811.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165282.1:p.Arg311Ter",
        "hgvsWellDefined": "NP_001165282.1:p.Arg311_Gln449delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015366"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089149",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171812.1:c.1045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165283.1:p.Arg349Ter",
        "hgvsWellDefined": "NP_001165283.1:p.Arg349_Gln487delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "XM_006711270.1:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711333.1:p.Arg398Ter",
        "hgvsWellDefined": "XP_006711333.1:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "XM_011509407.1:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507709.1:p.Arg398Ter",
        "hgvsWellDefined": "XP_011507709.1:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825068859",
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_000157.4:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000148.2:p.Arg398Ter",
        "hgvsWellDefined": "NP_000148.2:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368373.8:c.1192C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000157.4:c.1192C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357357.3:p.Arg398Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000148.2:p.Arg398Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA221387",
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005741.3:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005741.1:p.Arg398Ter",
        "hgvsWellDefined": "NP_001005741.1:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954984",
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005742.3:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005742.1:p.Arg398Ter",
        "hgvsWellDefined": "NP_001005742.1:p.Arg398_Gln536delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088699",
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171811.2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165282.1:p.Arg311Ter",
        "hgvsWellDefined": "NP_001165282.1:p.Arg311_Gln449delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089149",
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171812.2:c.1045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165283.1:p.Arg349Ter",
        "hgvsWellDefined": "NP_001165283.1:p.Arg349_Gln487delinsGlyMetGlnTyrSerHisSerIleIleThrAsnLeuLeuTyrHisValValGlyTrpThrAspTrpAsnLeuAlaLeuAsnProGluGlyGlyProAsnTrpValArgAsnPheValAspSerProIleIleValAspIleThrLysAspThrPheTyrLysGlnProMetPheTyrHisLeuGlyHisPheSerLysPheIleProGluGlySerGlnArgValGlyLeuValAlaSerGlnLysAsnAspLeuAspAlaValAlaLeuMetHisProAspGlySerAlaValValValValLeuAsnArgSerSerLysAspValProLeuThrIleLysAspProAlaValGlyPheLeuGluThrIleSerProGlyTyrSerIleHisThrTyrLeuTrpArgArgGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678713"
    }
  ],
  "type": "nucleotide"
}