{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA319928",
  "communityStandardTitle": [
    "NM_002437.5(MPV17):c.186+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46910[alleleid]",
        "alleleId": 46910,
        "preferredName": "NM_002437.5(MPV17):c.186+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38347",
        "RCV": [
          "RCV000031903",
          "RCV000195573",
          "RCV003466880"
        ],
        "variationId": 38347
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-27535859-A-G",
        "id": "2-27535859-A-G",
        "variant": "2:27535859 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27535859A>G?assembly=hg19",
        "id": "chr2:g.27535859A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27312992A>G?assembly=hg38",
        "id": "chr2:g.27312992A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147952488",
        "rs": 147952488
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27535859-A-G?dataset=gnomad_r2_1",
        "id": "2-27535859-A-G",
        "variant": "2:27535859 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27312992-A-G?dataset=gnomad_r3",
        "id": "2-27312992-A-G",
        "variant": "2:27312992 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27312992-A-G?dataset=gnomad_r4",
        "id": "2-27312992-A-G",
        "variant": "2:27312992 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27312992,
          "referenceAllele": "A",
          "start": 27312991
        }
      ],
      "hgvs": [
        "NC_000002.12:g.27312992A>G",
        "CM000664.2:g.27312992A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27535859,
          "referenceAllele": "A",
          "start": 27535858
        }
      ],
      "hgvs": [
        "NC_000002.11:g.27535859A>G",
        "CM000664.1:g.27535859A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27389363,
          "referenceAllele": "A",
          "start": 27389362
        }
      ],
      "hgvs": [
        "NC_000002.10:g.27389363A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14573,
          "referenceAllele": "T",
          "start": 14572
        }
      ],
      "hgvs": [
        "NG_008075.1:g.14573T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "T",
          "start": 271
        }
      ],
      "hgvs": [
        "NG_033055.1:g.272T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 237,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000380044.6:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369383.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.186+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.186+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:n.186+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:n.186+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 233,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000233545.6:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233545.2:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "endIntronDirection": "-",
          "endIntronOffset": 219,
          "referenceAllele": "T",
          "start": 1248,
          "startIntronDirection": "-",
          "startIntronOffset": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000357186.10:c.19-220T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349713.6:n.19-220T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 242,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000380044.5:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369383.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000402310.5:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383955.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 186,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 186,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000402722.5:c.151+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386000.1:n.151+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000403262.6:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385671.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 242,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000405076.5:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385175.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000405983.5:c.231+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384586.1:n.231+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "endIntronDirection": "-",
          "endIntronOffset": 219,
          "referenceAllele": "T",
          "start": 244,
          "startIntronDirection": "-",
          "startIntronOffset": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000415514.5:c.228-220T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388043.1:n.228-220T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000426513.6:c.151+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403824.2:n.151+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 336,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000428910.5:c.108+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405235.1:n.108+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 116,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000430991.5:c.116+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 163,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000616446.1:n.163+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "T",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000616707.1:n.396T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000617583.4:n.212+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 242,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000621183.4:n.242+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000621470.4:n.202+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 359,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000622003.4:n.359+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 242,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.4:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264326.2:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264383.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2785,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2785,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264327.2:c.27+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264384.1:n.27+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 394,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.2:c.138+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:n.138+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 270,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 270,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264326.4:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264383.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 394,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.3:c.138+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:n.138+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3471,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3471,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004150.1:c.168+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859639.1:n.168+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 290,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004151.1:c.138+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859640.1:n.138+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 313,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004152.1:c.27+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859641.1:n.27+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_024452913.1:c.138+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308681.1:n.138+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 237,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.5:c.186+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:n.186+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.186+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.186+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:n.186+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:n.186+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}