{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA334574",
  "communityStandardTitle": [
    "NM_001042492.3(NF1):c.4332+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186252[alleleid]",
        "alleleId": 186252,
        "preferredName": "NM_001042492.3(NF1):c.4332+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188306",
        "RCV": [
          "RCV000168300",
          "RCV000786798"
        ],
        "variationId": 188306
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.29585522T>C?assembly=hg19",
        "id": "chr17:g.29585522T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.31258504T>C?assembly=hg38",
        "id": "chr17:g.31258504T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204207",
        "rs": 786204207
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 31258504,
          "referenceAllele": "T",
          "start": 31258503
        }
      ],
      "hgvs": [
        "NC_000017.11:g.31258504T>C",
        "CM000679.2:g.31258504T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 29585522,
          "referenceAllele": "T",
          "start": 29585521
        }
      ],
      "hgvs": [
        "NC_000017.10:g.29585522T>C",
        "CM000679.1:g.29585522T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 26609648,
          "referenceAllele": "T",
          "start": 26609647
        }
      ],
      "hgvs": [
        "NC_000017.9:g.26609648T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 168528,
          "referenceAllele": "T",
          "start": 168527
        }
      ],
      "hgvs": [
        "NG_009018.1:g.168528T>C",
        "LRG_214:g.168528T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001383"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 120,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000581113.7:c.120+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492721.2:n.120+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4697,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4697,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696138.1:c.4314+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512431.1:n.4314+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696140.1:n.438+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696141.1:c.323+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 977,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 977,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000687863.1:n.977+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4695,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4695,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000691014.1:c.4362+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510595.1:n.4362+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000691649.1:n.304+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4665,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4665,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000358273.9:c.4332+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351015.4:n.4332+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.4332+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.4332+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:n.4332+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:n.4332+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4652,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4652,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000356175.7:c.4269+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348498.3:n.4269+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4715,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4715,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000358273.8:c.4332+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351015.4:n.4332+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3267,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3267,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000456735.6:c.3267+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389907.2:n.3267+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 848,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000466819.5:c.848+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 785,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000479614.1:c.785+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2805,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2805,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000493220.5:n.2805+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4371,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4371,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000579081.5:c.4371+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462408.1:n.4371+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4652,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4652,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_000267.3:c.4269+2T>C",
        "LRG_214t1:c.4269+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000258.1:n.4269+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4715,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4715,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.2:c.4332+2T>C",
        "LRG_214t2:c.4332+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:n.4332+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4665,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4665,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_005257983.1:c.4332+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258040.1:n.4332+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4602,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4602,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_005257984.1:c.4269+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258041.1:n.4269+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4695,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4695,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721922.1:c.4362+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721985.1:n.4362+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4962,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4962,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721923.2:c.4323+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721986.1:n.4323+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4695,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4695,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721924.1:c.4362+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721987.1:n.4362+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4632,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4632,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721925.1:c.4299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721988.1:n.4299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4695,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4695,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721926.2:c.4362+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721989.1:n.4362+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4695,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4695,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721927.1:c.4362+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721990.1:n.4362+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4695,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4695,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721928.2:c.4362+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721991.1:n.4362+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4692,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4692,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524852.1:c.4359+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523154.1:n.4359+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6153,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 6153,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524853.1:c.4323+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523155.1:n.4323+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5188,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5188,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524854.1:c.4323+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523156.1:n.4323+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5220,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5220,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524855.1:c.4323+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523157.1:n.4323+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5898,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5898,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524856.1:c.4323+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523158.1:n.4323+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4695,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4695,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524857.1:c.4362+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523159.1:n.4362+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4665,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4665,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.3:c.4332+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:n.4332+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.4332+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.4332+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:n.4332+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:n.4332+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}