{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120846",
  "communityStandardTitle": [
    "NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25000[alleleid]",
        "alleleId": 25000,
        "preferredName": "NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9961",
        "RCV": [
          "RCV001799598"
        ],
        "variationId": 9961
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.15349890G>A?assembly=hg19",
        "id": "chrX:g.15349890G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.15331768G>A?assembly=hg38",
        "id": "chrX:g.15331768G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199422233",
        "rs": 199422233
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 15331768,
          "referenceAllele": "G",
          "start": 15331767
        }
      ],
      "hgvs": [
        "NC_000023.11:g.15331768G>A",
        "CM000685.2:g.15331768G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 15349890,
          "referenceAllele": "G",
          "start": 15349889
        }
      ],
      "hgvs": [
        "NC_000023.10:g.15349890G>A",
        "CM000685.1:g.15349890G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 15259811,
          "referenceAllele": "G",
          "start": 15259810
        }
      ],
      "hgvs": [
        "NC_000023.9:g.15259811G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8771,
          "referenceAllele": "C",
          "start": 8770
        }
      ],
      "hgvs": [
        "NG_009786.1:g.8771C>T",
        "LRG_160:g.8771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001641"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "C",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000333590.6:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369820.3:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000369820.3:p.Gln55_Arg484delinsLeuSerGlnCysLeuIleGluArgGlyHisLysValIleIleValThrHisAlaTyrGlyAsnArgLysGlyIleArgTyrLeuThrSerGlyLeuLysValTyrTyrLeuProLeuLysValMetTyrAsnGlnSerThrAlaThrThrLeuPheHisSerLeuProLeuLeuArgTyrIlePheValArgGluArgValThrIleIleHisSerHisSerSerPheSerAlaMetAlaHisAspAlaLeuPheHisAlaLysThrMetGlyLeuGlnThrValPheThrAspHisSerLeuPheGlyPheAlaAspValSerSerValLeuThrAsnLysLeuLeuThrValSerLeuCysAspThrAsnHisIleIleCysValSerTyrThrSerLysGluAsnThrValLeuArgAlaAlaLeuAsnProGluIleValSerValIleProAsnAlaValAspProThrAspPheThrProAspProPheArgArgHisAspSerIleThrIleValValValSerArgLeuValTyrArgLysGlyIleAspLeuLeuSerGlyIleIleProGluLeuCysGlnLysTyrProAspLeuAsnPheIleIleGlyGlyGluGlyProLysArgIleIleLeuGluGluValArgGluArgTyrGlnLeuHisAspArgValArgLeuLeuGlyAlaLeuGluHisLysAspValArgAsnValLeuValGlnGlyHisIlePheLeuAsnThrSerLeuThrGluAlaPheCysMetAlaIleValGluAlaAlaSerCysGlyLeuGlnValValSerThrArgValGlyGlyIleProGluValLeuProGluAsnLeuIleIleLeuCysGluProSerValLysSerLeuCysGluGlyLeuGluLysAlaIlePheGlnLeuLysSerGlyThrLeuProAlaProGluAsnIleHisAsnIleValLysThrPheTyrThrTrpArgAsnValAlaGluArgThrGluLysValTyrAspArgValSerValGluAlaValLeuProMetAspLysArgLeuAspArgLeuIleSerHisCysGlyProValThrGlyTyrIlePheAlaLeuLeuAlaValPheAsnPheLeuPheLeuIlePheLeuArgTrpMetThrProAspSerIleIleAspValAlaIleAspAlaThrGlyProArgGlyAlaTrpThrAsnAsnTyrSerHisSerLysArgGlyGlyGluAsnAsnGluIleSerGluThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333590.6:c.163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002641.4:c.163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369820.3:p.Gln55Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002632.1:p.Gln55Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 106,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000637296.1:c.-315+106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490545.1:n.-315+106C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "C",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000637626.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489928.1:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000489928.1:p.Gln55_Glu274delinsLeuSerGlnCysLeuIleGluArgGlyHisLysValIleIleValThrHisAlaTyrGlyAsnArgLysGlyIleArgTyrLeuThrSerGlyLeuLysValTyrTyrLeuProLeuLysValMetTyrAsnGlnSerThrAlaThrThrLeuPheHisSerLeuProLeuLeuArgTyrIlePheValArgGluArgValThrIleIleHisSerHisSerSerPheSerAlaMetAlaHisAspAlaLeuPheHisAlaLysThrMetGlyLeuGlnThrValPheThrAspHisSerLeuPheGlyPheAlaAspValSerSerValLeuThrAsnLysLeuLeuThrValSerLeuCysAspThrAsnHisIleIleCysValSerTyrThrSerLysGluAsnThrValLeuArgAlaAlaLeuAsnProGluIleValSerValIleProAsnAlaValAspProThrAspPheThrProAspProPheArgArgHisAspSerIleThrIleValValValSerArgLeuValTyrArgLysAspGlyValSerLeuCysLeuProGlyTrpSerAlaValAlaGlnSerArgLeuThrAlaAsnSerAlaSerArgValHisAlaIleLeuLeuProGlnProProGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000638131.1:c.111+52C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490483.1:n.111+52C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000333590.5:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369820.3:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000369820.3:p.Gln55_Arg484delinsLeuSerGlnCysLeuIleGluArgGlyHisLysValIleIleValThrHisAlaTyrGlyAsnArgLysGlyIleArgTyrLeuThrSerGlyLeuLysValTyrTyrLeuProLeuLysValMetTyrAsnGlnSerThrAlaThrThrLeuPheHisSerLeuProLeuLeuArgTyrIlePheValArgGluArgValThrIleIleHisSerHisSerSerPheSerAlaMetAlaHisAspAlaLeuPheHisAlaLysThrMetGlyLeuGlnThrValPheThrAspHisSerLeuPheGlyPheAlaAspValSerSerValLeuThrAsnLysLeuLeuThrValSerLeuCysAspThrAsnHisIleIleCysValSerTyrThrSerLysGluAsnThrValLeuArgAlaAlaLeuAsnProGluIleValSerValIleProAsnAlaValAspProThrAspPheThrProAspProPheArgArgHisAspSerIleThrIleValValValSerArgLeuValTyrArgLysGlyIleAspLeuLeuSerGlyIleIleProGluLeuCysGlnLysTyrProAspLeuAsnPheIleIleGlyGlyGluGlyProLysArgIleIleLeuGluGluValArgGluArgTyrGlnLeuHisAspArgValArgLeuLeuGlyAlaLeuGluHisLysAspValArgAsnValLeuValGlnGlyHisIlePheLeuAsnThrSerLeuThrGluAlaPheCysMetAlaIleValGluAlaAlaSerCysGlyLeuGlnValValSerThrArgValGlyGlyIleProGluValLeuProGluAsnLeuIleIleLeuCysGluProSerValLysSerLeuCysGluGlyLeuGluLysAlaIlePheGlnLeuLysSerGlyThrLeuProAlaProGluAsnIleHisAsnIleValLysThrPheTyrThrTrpArgAsnValAlaGluArgThrGluLysValTyrAspArgValSerValGluAlaValLeuProMetAspLysArgLeuAspArgLeuIleSerHisCysGlyProValThrGlyTyrIlePheAlaLeuLeuAlaValPheAsnPheLeuPheLeuIlePheLeuArgTrpMetThrProAspSerIleIleAspValAlaIleAspAlaThrGlyProArgGlyAlaTrpThrAsnAsnTyrSerHisSerLysArgGlyGlyGluAsnAsnGluIleSerGluThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 106,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000474662.2:n.142+106C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000482148.6:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489528.1:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000489528.1:p.Gln55_Arg315delinsLeuSerGlnCysLeuIleGluArgGlyHisLysValIleIleValThrHisAlaTyrGlyAsnArgLysGlyIleArgTyrLeuThrSerGlyLeuLysValTyrTyrLeuProLeuLysValMetTyrAsnGlnSerThrAlaThrThrLeuPheHisSerLeuProLeuLeuArgValArgLeuLeuGlyAlaLeuGluHisLysAspValArgAsnValLeuValGlnGlyHisIlePheLeuAsnThrSerLeuThrGluAlaPheCysMetAlaIleValGluAlaAlaSerCysGlyLeuGlnValValSerThrArgValGlyGlyIleProGluValLeuProGluAsnLeuIleIleLeuCysGluProSerValLysSerLeuCysGluGlyLeuGluLysAlaIlePheGlnLeuLysSerGlyThrLeuProAlaProGluAsnIleHisAsnIleValLysThrPheTyrThrTrpArgAsnValAlaGluArgThrGluLysValTyrAspArgValSerValGluAlaValLeuProMetAspLysArgLeuAspArgLeuIleSerHisCysGlyProValThrGlyTyrIlePheAlaLeuLeuAlaValPheAsnPheLeuPheLeuIlePheLeuArgTrpMetThrProAspSerIleIleAspValAlaIleAspAlaThrGlyProArgGlyAlaTrpThrAsnAsnTyrSerHisSerLysArgGlyGlyGluAsnAsnGluIleSerGluThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000542278.6:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442653.2:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000442653.2:p.Gln55_Arg484delinsLeuSerGlnCysLeuIleGluArgGlyHisLysValIleIleValThrHisAlaTyrGlyAsnArgLysGlyIleArgTyrLeuThrSerGlyLeuLysValTyrTyrLeuProLeuLysValMetTyrAsnGlnSerThrAlaThrThrLeuPheHisSerLeuProLeuLeuArgTyrIlePheValArgGluArgValThrIleIleHisSerHisSerSerPheSerAlaMetAlaHisAspAlaLeuPheHisAlaLysThrMetGlyLeuGlnThrValPheThrAspHisSerLeuPheGlyPheAlaAspValSerSerValLeuThrAsnLysLeuLeuThrValSerLeuCysAspThrAsnHisIleIleCysValSerTyrThrSerLysGluAsnThrValLeuArgAlaAlaLeuAsnProGluIleValSerValIleProAsnAlaValAspProThrAspPheThrProAspProPheArgArgHisAspSerIleThrIleValValValSerArgLeuValTyrArgLysGlyIleAspLeuLeuSerGlyIleIleProGluLeuCysGlnLysTyrProAspLeuAsnPheIleIleGlyGlyGluGlyProLysArgIleIleLeuGluGluValArgGluArgTyrGlnLeuHisAspArgValArgLeuLeuGlyAlaLeuGluHisLysAspValArgAsnValLeuValGlnGlyHisIlePheLeuAsnThrSerLeuThrGluAlaPheCysMetAlaIleValGluAlaAlaSerCysGlyLeuGlnValValSerThrArgValGlyGlyIleProGluValLeuProGluAsnLeuIleIleLeuCysGluProSerValLysSerLeuCysGluGlyLeuGluLysAlaIlePheGlnLeuLysSerGlyThrLeuProAlaProGluAsnIleHisAsnIleValLysThrPheTyrThrTrpArgAsnValAlaGluArgThrGluLysValTyrAspArgValSerValGluAlaValLeuProMetAspLysArgLeuAspArgLeuIleSerHisCysGlyProValThrGlyTyrIlePheAlaLeuLeuAlaValPheAsnPheLeuPheLeuIlePheLeuArgTrpMetThrProAspSerIleIleAspValAlaIleAspAlaThrGlyProArgGlyAlaTrpThrAsnAsnTyrSerHisSerLysArgGlyGlyGluAsnAsnGluIleSerGluThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44,
          "endIntronDirection": "+",
          "endIntronOffset": 3733,
          "referenceAllele": "C",
          "start": 44,
          "startIntronDirection": "+",
          "startIntronOffset": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000634582.1:c.13+3733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489540.1:n.13+3733C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 106,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000634640.1:c.-231+106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489083.1:n.-231+106C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "C",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000635045.1:n.248C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "C",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000635543.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489205.1:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000489205.1:p.Gln55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000635598.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489207.1:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000489207.1:p.Gln55_Ala118delinsLeuSerGlnCysLeuIleGluArgGlyHisLysValIleIleValThrHisAlaTyrGlyAsnArgLysGlyIleArgTyrLeuThrSerGlyLeuLysValTyrTyrLeuProLeuLysValMetTyrAsnGlnSerThrAlaThrThrLeuPheHisSerLeuProLeuLeuArgAspArgPheAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120848",
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_002641.3:c.163C>T",
        "LRG_160t1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002632.1:p.Gln55Ter",
        "hgvsWellDefined": "NP_002632.1:p.Gln55_Arg484delinsLeuSerGlnCysLeuIleGluArgGlyHisLysValIleIleValThrHisAlaTyrGlyAsnArgLysGlyIleArgTyrLeuThrSerGlyLeuLysValTyrTyrLeuProLeuLysValMetTyrAsnGlnSerThrAlaThrThrLeuPheHisSerLeuProLeuLeuArgTyrIlePheValArgGluArgValThrIleIleHisSerHisSerSerPheSerAlaMetAlaHisAspAlaLeuPheHisAlaLysThrMetGlyLeuGlnThrValPheThrAspHisSerLeuPheGlyPheAlaAspValSerSerValLeuThrAsnLysLeuLeuThrValSerLeuCysAspThrAsnHisIleIleCysValSerTyrThrSerLysGluAsnThrValLeuArgAlaAlaLeuAsnProGluIleValSerValIleProAsnAlaValAspProThrAspPheThrProAspProPheArgArgHisAspSerIleThrIleValValValSerArgLeuValTyrArgLysGlyIleAspLeuLeuSerGlyIleIleProGluLeuCysGlnLysTyrProAspLeuAsnPheIleIleGlyGlyGluGlyProLysArgIleIleLeuGluGluValArgGluArgTyrGlnLeuHisAspArgValArgLeuLeuGlyAlaLeuGluHisLysAspValArgAsnValLeuValGlnGlyHisIlePheLeuAsnThrSerLeuThrGluAlaPheCysMetAlaIleValGluAlaAlaSerCysGlyLeuGlnValValSerThrArgValGlyGlyIleProGluValLeuProGluAsnLeuIleIleLeuCysGluProSerValLysSerLeuCysGluGlyLeuGluLysAlaIlePheGlnLeuLysSerGlyThrLeuProAlaProGluAsnIleHisAsnIleValLysThrPheTyrThrTrpArgAsnValAlaGluArgThrGluLysValTyrAspArgValSerValGluAlaValLeuProMetAspLysArgLeuAspArgLeuIleSerHisCysGlyProValThrGlyTyrIlePheAlaLeuLeuAlaValPheAsnPheLeuPheLeuIlePheLeuArgTrpMetThrProAspSerIleIleAspValAlaIleAspAlaThrGlyProArgGlyAlaTrpThrAsnAsnTyrSerHisSerLysArgGlyGlyGluAsnAsnGluIleSerGluThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 3733,
          "referenceAllele": "C",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_020473.3:c.13+3733C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065206.3:n.13+3733C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NR_033835.1:n.279C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 106,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NR_033836.1:n.173+106C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120848",
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "C",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_002641.4:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002632.1:p.Gln55Ter",
        "hgvsWellDefined": "NP_002632.1:p.Gln55_Arg484delinsLeuSerGlnCysLeuIleGluArgGlyHisLysValIleIleValThrHisAlaTyrGlyAsnArgLysGlyIleArgTyrLeuThrSerGlyLeuLysValTyrTyrLeuProLeuLysValMetTyrAsnGlnSerThrAlaThrThrLeuPheHisSerLeuProLeuLeuArgTyrIlePheValArgGluArgValThrIleIleHisSerHisSerSerPheSerAlaMetAlaHisAspAlaLeuPheHisAlaLysThrMetGlyLeuGlnThrValPheThrAspHisSerLeuPheGlyPheAlaAspValSerSerValLeuThrAsnLysLeuLeuThrValSerLeuCysAspThrAsnHisIleIleCysValSerTyrThrSerLysGluAsnThrValLeuArgAlaAlaLeuAsnProGluIleValSerValIleProAsnAlaValAspProThrAspPheThrProAspProPheArgArgHisAspSerIleThrIleValValValSerArgLeuValTyrArgLysGlyIleAspLeuLeuSerGlyIleIleProGluLeuCysGlnLysTyrProAspLeuAsnPheIleIleGlyGlyGluGlyProLysArgIleIleLeuGluGluValArgGluArgTyrGlnLeuHisAspArgValArgLeuLeuGlyAlaLeuGluHisLysAspValArgAsnValLeuValGlnGlyHisIlePheLeuAsnThrSerLeuThrGluAlaPheCysMetAlaIleValGluAlaAlaSerCysGlyLeuGlnValValSerThrArgValGlyGlyIleProGluValLeuProGluAsnLeuIleIleLeuCysGluProSerValLysSerLeuCysGluGlyLeuGluLysAlaIlePheGlnLeuLysSerGlyThrLeuProAlaProGluAsnIleHisAsnIleValLysThrPheTyrThrTrpArgAsnValAlaGluArgThrGluLysValTyrAspArgValSerValGluAlaValLeuProMetAspLysArgLeuAspArgLeuIleSerHisCysGlyProValThrGlyTyrIlePheAlaLeuLeuAlaValPheAsnPheLeuPheLeuIlePheLeuArgTrpMetThrProAspSerIleIleAspValAlaIleAspAlaThrGlyProArgGlyAlaTrpThrAsnAsnTyrSerHisSerLysArgGlyGlyGluAsnAsnGluIleSerGluThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333590.6:c.163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002641.4:c.163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369820.3:p.Gln55Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002632.1:p.Gln55Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}