{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372068657",
  "communityStandardTitle": [
    "NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2742352[alleleid]",
        "alleleId": 2742352,
        "preferredName": "NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2577457",
        "RCV": [
          "RCV003324645"
        ],
        "variationId": 2577457
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.116631448G>A?assembly=hg19",
        "id": "chr8:g.116631448G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.115619221G>A?assembly=hg38",
        "id": "chr8:g.115619221G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2536913760",
        "rs": 2536913760
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 115619221,
          "referenceAllele": "G",
          "start": 115619220
        }
      ],
      "hgvs": [
        "NC_000008.11:g.115619221G>A",
        "CM000670.2:g.115619221G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 116631448,
          "referenceAllele": "G",
          "start": 116631447
        }
      ],
      "hgvs": [
        "NC_000008.10:g.116631448G>A",
        "CM000670.1:g.116631448G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 116700623,
          "referenceAllele": "G",
          "start": 116700622
        }
      ],
      "hgvs": [
        "NC_000008.9:g.116700623G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54781,
          "referenceAllele": "C",
          "start": 54780
        }
      ],
      "hgvs": [
        "NG_012383.3:g.54781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000395715.8:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379065.3:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.877C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.877C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Gln293Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Gln293Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000640765.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492037.1:p.Gln280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000220888.9:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220888.5:p.Gln280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000395715.7:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379065.3:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000517323.2:c.850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430803.2:p.Gln284Ter",
        "hgvsWellDefined": "ENSP00000430803.2:p.Gln284_Arg691del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000519076.5:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428910.1:p.Gln234Ter",
        "hgvsWellDefined": "ENSP00000428910.1:p.Gln234_Glu1035delinsLysValAsnArgSerValPheSerGlyValLeuGlnAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000519674.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429174.1:p.Gln280Ter",
        "hgvsWellDefined": "ENSP00000429174.1:p.Gln280_Leu902delinsLysValAsnArgSerValPheSerGlyValLeuGlnAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgValPheGluSerAlaTrpMetThrProGluGluGlnPheSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000520276.5:c.850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428680.1:p.Gln284Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.2:c.850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269831.1:p.Gln284Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1468,
          "referenceAllele": "C",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282903.2:c.856C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Gln286Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.4:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1297,
          "referenceAllele": "C",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_005251049.2:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251106.1:p.Gln280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_006716625.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716688.1:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517264.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515566.1:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517265.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515567.1:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "referenceAllele": "C",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517266.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515568.1:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517267.1:c.856C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515569.1:p.Gln286Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517268.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515570.1:p.Gln280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Gln280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1623,
          "referenceAllele": "C",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517264.2:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515566.1:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517266.3:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515568.1:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517268.2:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515570.1:p.Gln280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.3:c.850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269831.1:p.Gln284Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282903.3:c.856C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Gln286Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.2:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Gln280Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.5:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Gln293Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.877C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.877C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Gln293Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Gln293Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}