{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13252454",
  "communityStandardTitle": [
    "NM_001227.5(CASP7):c.247+91C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.115481018C>T?assembly=hg19",
        "id": "chr10:g.115481018C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.113721259C>T?assembly=hg38",
        "id": "chr10:g.113721259C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3814231",
        "rs": 3814231
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-115481018-C-T?dataset=gnomad_r2_1",
        "id": "10-115481018-C-T",
        "variant": "10:115481018 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-113721259-C-T?dataset=gnomad_r3",
        "id": "10-113721259-C-T",
        "variant": "10:113721259 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-113721259-C-T?dataset=gnomad_r4",
        "id": "10-113721259-C-T",
        "variant": "10:113721259 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 113721259,
          "referenceAllele": "C",
          "start": 113721258
        }
      ],
      "hgvs": [
        "NC_000010.11:g.113721259C>T",
        "CM000672.2:g.113721259C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 115481018,
          "referenceAllele": "C",
          "start": 115481017
        }
      ],
      "hgvs": [
        "NC_000010.10:g.115481018C>T",
        "CM000672.1:g.115481018C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 115471008,
          "referenceAllele": "C",
          "start": 115471007
        }
      ],
      "hgvs": [
        "NC_000010.9:g.115471008C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000369318.8:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358324.4:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750391",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369318.8:c.247+91C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001227.5:c.247+91C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358324.4:n.247+91C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001218.1:n.247+91C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000672138.1:c.244+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500735.1:n.244+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 631,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000345633.8:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298701.7:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 393,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000369315.5:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358321.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000369318.7:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358324.3:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000369321.6:c.502+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358327.3:n.502+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 393,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000369331.8:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358337.3:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000429617.5:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400094.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 239,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000452490.3:c.172+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398107.2:n.172+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 571,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000468790.1:n.571+91C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 171,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000487232.1:n.171+91C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000614447.4:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478285.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000621345.4:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480584.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000621607.4:c.346+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478999.1:n.346+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001227.4:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001218.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001267056.1:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001253985.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001267057.1:c.502+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001253986.1:n.502+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 239,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001267058.1:c.172+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001253987.1:n.172+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033338.5:c.346+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203124.1:n.346+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 631,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033339.4:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203125.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033340.3:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203126.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 367,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "XM_006718017.2:c.289+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718080.1:n.289+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "XM_006718018.1:c.271+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718081.1:n.271+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "XM_011540259.1:c.346+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538561.1:n.346+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "XM_011540260.1:c.148+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538562.1:n.148+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 466,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001320911.1:c.271+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307840.1:n.271+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "XM_006718017.3:c.289+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718080.1:n.289+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 615,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "XM_017016763.1:c.304+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872252.1:n.304+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "XM_017016764.1:c.271+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872253.1:n.271+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001227.5:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001218.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680042",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369318.8:c.247+91C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001227.5:c.247+91C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358324.4:n.247+91C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001218.1:n.247+91C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 434,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001320911.2:c.271+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307840.1:n.271+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033338.6:c.346+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203124.1:n.346+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 388,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033339.5:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203125.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 403,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033340.4:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203126.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 403,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001267056.2:c.247+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001253985.1:n.247+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "C",
          "start": 206,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001267058.2:c.172+91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001253987.1:n.172+91C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715065"
    }
  ],
  "type": "nucleotide"
}