{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA314876",
  "communityStandardTitle": [
    "NM_001482.3(GATM):c.778C>T (p.Arg260Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1708111",
        "active": true,
        "id": "COSM1708111"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202851[alleleid]",
        "alleleId": 202851,
        "preferredName": "NM_001482.3(GATM):c.778C>T (p.Arg260Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205617",
        "RCV": [
          "RCV000187602",
          "RCV002305458"
        ],
        "variationId": 205617
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-45658604-G-A",
        "id": "15-45658604-G-A",
        "variant": "15:45658604 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45658604G>A?assembly=hg19",
        "id": "chr15:g.45658604G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45366406G>A?assembly=hg38",
        "id": "chr15:g.45366406G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775933965",
        "rs": 775933965
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45366406-G-A?dataset=gnomad_r3",
        "id": "15-45366406-G-A",
        "variant": "15:45366406 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45366406-G-A?dataset=gnomad_r4",
        "id": "15-45366406-G-A",
        "variant": "15:45366406 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45366406,
          "referenceAllele": "G",
          "start": 45366405
        }
      ],
      "hgvs": [
        "NC_000015.10:g.45366406G>A",
        "CM000677.2:g.45366406G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45658604,
          "referenceAllele": "G",
          "start": 45658603
        }
      ],
      "hgvs": [
        "NC_000015.9:g.45658604G>A",
        "CM000677.1:g.45658604G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 43445896,
          "referenceAllele": "G",
          "start": 43445895
        }
      ],
      "hgvs": [
        "NC_000015.8:g.43445896G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17377,
          "referenceAllele": "C",
          "start": 17376
        }
      ],
      "hgvs": [
        "NG_011674.1:g.17377C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40912,
          "referenceAllele": "C",
          "start": 40911
        }
      ],
      "hgvs": [
        "NG_011674.2:g.40912C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616145"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000396659.8:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379895.3:p.Arg260Ter",
        "hgvsWellDefined": "ENSP00000379895.3:p.Arg260_Asp423delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753548",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396659.8:c.778C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001482.3:c.778C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379895.3:p.Arg260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001473.1:p.Arg260Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000674905.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502176.1:p.Arg260Ter",
        "hgvsWellDefined": "ENSP00000502176.1:p.Arg260_Thr404delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGluAlaProSerTyrTyrPheThrGluSerGlnTyrPheTyrPheGlnHisThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000675158.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501737.1:p.Arg260Ter",
        "hgvsWellDefined": "ENSP00000501737.1:p.Arg260_Arg371delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspValValAlaValPheArgSerSerThrLeuAspValIleGlnMetAlaPheHisGluCysLeuAsnAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000675323.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502445.1:p.Arg260Ter",
        "hgvsWellDefined": "ENSP00000502445.1:p.Arg260_Lys391delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyMetTyrAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000675701.1:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502671.1:p.Arg240Ter",
        "hgvsWellDefined": "ENSP00000502671.1:p.Arg240_Asp403delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000675974.1:n.869C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000676090.1:c.*1509C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501630.1:n.*1509C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000396659.7:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379895.3:p.Arg260Ter",
        "hgvsWellDefined": "ENSP00000379895.3:p.Arg260_Asp423delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000558336.5:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454008.1:p.Arg260Ter",
        "hgvsWellDefined": "ENSP00000454008.1:p.Arg260_Lys391delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyMetTyrAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000558362.5:n.2434C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000558916.1:n.676C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA314877",
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "NM_001482.2:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001473.1:p.Arg260Ter",
        "hgvsWellDefined": "NP_001473.1:p.Arg260_Asp423delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "XM_011521450.1:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519752.1:p.Arg276Ter",
        "hgvsWellDefined": "XP_011519752.1:p.Arg276_Asp439delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "XM_011521451.1:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519753.1:p.Arg274Ter",
        "hgvsWellDefined": "XP_011519753.1:p.Arg274_Asp437delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827066898",
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "NM_001321015.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307944.1:p.Arg131Ter",
        "hgvsWellDefined": "NP_001307944.1:p.Arg131_Asp294delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA314877",
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "NM_001482.3:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001473.1:p.Arg260Ter",
        "hgvsWellDefined": "NP_001473.1:p.Arg260_Asp423delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665009",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396659.8:c.778C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001482.3:c.778C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379895.3:p.Arg260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001473.1:p.Arg260Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827066898",
      "coordinates": [
        {
          "allele": "T",
          "end": 1325,
          "referenceAllele": "C",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "NM_001321015.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307944.1:p.Arg131Ter",
        "hgvsWellDefined": "NP_001307944.1:p.Arg131_Asp294delinsAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685146"
    }
  ],
  "type": "nucleotide"
}