{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355884581",
  "communityStandardTitle": [
    "NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)",
    "NM_032263.5(IQCG):c.-60+5479C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=519049[alleleid]",
        "alleleId": 519049,
        "preferredName": "NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/537236",
        "RCV": [
          "RCV000646032"
        ],
        "variationId": 537236
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.197680921G>A?assembly=hg19",
        "id": "chr3:g.197680921G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.197954050G>A?assembly=hg38",
        "id": "chr3:g.197954050G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553811551",
        "rs": 1553811551
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 197954050,
          "referenceAllele": "G",
          "start": 197954049
        }
      ],
      "hgvs": [
        "NC_000003.12:g.197954050G>A",
        "CM000665.2:g.197954050G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 197680921,
          "referenceAllele": "G",
          "start": 197680920
        }
      ],
      "hgvs": [
        "NC_000003.11:g.197680921G>A",
        "CM000665.1:g.197680921G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 199165318,
          "referenceAllele": "G",
          "start": 199165317
        }
      ],
      "hgvs": [
        "NC_000003.10:g.199165318G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8870,
          "referenceAllele": "G",
          "start": 8869
        }
      ],
      "hgvs": [
        "NG_011743.1:g.8870G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10966,
          "referenceAllele": "C",
          "start": 10965
        }
      ],
      "hgvs": [
        "NG_033072.1:g.10966C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005404"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "ENST00000265239.11:c.-60+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265239.6:n.-60+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265239.11:c.-60+5479C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032263.5:c.-60+5479C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265239.6:n.-60+5479C>T"
          },
          "RefSeq": {
            "hgvs": "NP_115639.1:n.-60+5479C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000448864.6:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393393.1:p.Trp71Ter",
        "hgvsWellDefined": "ENSP00000393393.1:p.Trp71_Ile110delinsGlyLysValThrArgAlaHisGlyAsnSerGlyMetValArgAlaLysPheArgSerAsnLeuProAlaLysAlaIleGlyHisArgIleArgValMetLeuTyrProSerArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000642387.1:n.403G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000647248.2:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495672.1:p.Trp71Ter",
        "hgvsWellDefined": "ENSP00000495672.1:p.Trp71_Ile110delinsGlyLysValThrArgAlaHisGlyAsnSerGlyMetValArgAlaLysPheArgSerAsnLeuProAlaLysAlaIleGlyHisArgIleArgValMetLeuTyrProSerArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647248.2:c.212G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000996.4:c.212G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495672.1:p.Trp71Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000987.2:p.Trp71Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "ENST00000265239.10:c.-60+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265239.6:n.-60+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000329092.12:n.359G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS259021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 67,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "ENST00000416896.1:c.-50+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406411.1:n.-50+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 277,
          "referenceAllele": "G",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000429437.5:c.*61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398058.1:n.*61G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000439255.1:c.*211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410683.1:n.*211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000442341.5:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387688.1:p.Trp71Ter",
        "hgvsWellDefined": "ENSP00000387688.1:p.Trp71_Ala94del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000448864.5:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393393.1:p.Trp71Ter",
        "hgvsWellDefined": "ENSP00000393393.1:p.Trp71_Ile110delinsGlyLysValThrArgAlaHisGlyAsnSerGlyMetValArgAlaLysPheArgSerAsnLeuProAlaLysAlaIleGlyHisArgIleArgValMetLeuTyrProSerArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000464167.5:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419117.1:p.Trp71Ter",
        "hgvsWellDefined": "ENSP00000419117.1:p.Trp71_Ile110delinsGlyLysValThrArgAlaHisGlyAsnSerGlyMetValArgAlaLysPheArgSerAsnLeuProAlaLysAlaIleGlyHisArgIleArgValMetLeuTyrProSerArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000474640.1:n.488G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 312,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "ENST00000480302.5:n.312+5479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "ENST00000485439.5:n.276G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658801488",
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "NM_000996.2:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000987.2:p.Trp71Ter",
        "hgvsWellDefined": "NP_000987.2:p.Trp71_Ile110delinsGlyLysValThrArgAlaHisGlyAsnSerGlyMetValArgAlaLysPheArgSerAsnLeuProAlaLysAlaIleGlyHisArgIleArgValMetLeuTyrProSerArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021578",
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "NM_001316311.1:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303240.1:p.Trp71Ter",
        "hgvsWellDefined": "NP_001303240.1:p.Trp71_Ile110delinsGlyLysValThrArgAlaHisGlyAsnSerGlyMetValArgAlaLysPheArgSerAsnLeuProAlaLysAlaIleGlyHisArgIleArgValMetLeuTyrProSerArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 362,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "NM_032263.3:c.-60+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115639.1:n.-60+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 356,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "XR_924190.1:n.356+5479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658801488",
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "NM_000996.4:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000987.2:p.Trp71Ter",
        "hgvsWellDefined": "NP_000987.2:p.Trp71_Ile110delinsGlyLysValThrArgAlaHisGlyAsnSerGlyMetValArgAlaLysPheArgSerAsnLeuProAlaLysAlaIleGlyHisArgIleArgValMetLeuTyrProSerArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510883",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647248.2:c.212G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000996.4:c.212G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495672.1:p.Trp71Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000987.2:p.Trp71Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "NM_001323028.1:c.-50+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309957.1:n.-50+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "NM_001323029.1:c.-375+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309958.1:n.-375+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "NM_032263.4:c.-60+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115639.1:n.-60+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 281,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "XM_024453790.1:c.-60+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309558.1:n.-60+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 356,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "XR_002959600.1:n.356+5479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "NM_032263.5:c.-60+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115639.1:n.-60+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265239.11:c.-60+5479C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032263.5:c.-60+5479C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265239.6:n.-60+5479C>T"
          },
          "RefSeq": {
            "hgvs": "NP_115639.1:n.-60+5479C>T"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021578",
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010345",
      "geneNCBI_id": 6165,
      "geneSymbol": "RPL35A",
      "hgvs": [
        "NM_001316311.2:c.212G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303240.1:p.Trp71Ter",
        "hgvsWellDefined": "NP_001303240.1:p.Trp71_Ile110delinsGlyLysValThrArgAlaHisGlyAsnSerGlyMetValArgAlaLysPheArgSerAsnLeuProAlaLysAlaIleGlyHisArgIleArgValMetLeuTyrProSerArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "NM_001323028.2:c.-50+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309957.1:n.-50+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 5479,
          "referenceAllele": "C",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025251",
      "geneNCBI_id": 84223,
      "geneSymbol": "IQCG",
      "hgvs": [
        "NM_001323029.2:c.-375+5479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309958.1:n.-375+5479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718282"
    }
  ],
  "type": "nucleotide"
}