{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399017902",
  "communityStandardTitle": [
    "NM_001042492.3(NF1):c.7615+1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1382218",
        "active": true,
        "id": "COSM1382218"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1382219",
        "active": true,
        "id": "COSM1382219"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5180159",
        "active": true,
        "id": "COSM5180159"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1064117[alleleid]",
        "alleleId": 1064117,
        "preferredName": "NM_001042492.3(NF1):c.7615+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074474",
        "RCV": [
          "RCV001387787",
          "RCV001542805"
        ],
        "variationId": 1074474
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.29679433G>A?assembly=hg19",
        "id": "chr17:g.29679433G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.31352415G>A?assembly=hg38",
        "id": "chr17:g.31352415G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555536380",
        "rs": 1555536380
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 31352415,
          "referenceAllele": "G",
          "start": 31352414
        }
      ],
      "hgvs": [
        "NC_000017.11:g.31352415G>A",
        "CM000679.2:g.31352415G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 29679433,
          "referenceAllele": "G",
          "start": 29679432
        }
      ],
      "hgvs": [
        "NC_000017.10:g.29679433G>A",
        "CM000679.1:g.29679433G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 26703559,
          "referenceAllele": "G",
          "start": 26703558
        }
      ],
      "hgvs": [
        "NC_000017.9:g.26703559G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 262439,
          "referenceAllele": "G",
          "start": 262438
        }
      ],
      "hgvs": [
        "NG_009018.1:g.262439G>A",
        "LRG_214:g.262439G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001383"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7980,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7980,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696138.1:c.7597+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512431.1:n.7597+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2888,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2888,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000684826.1:c.2179+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509994.1:n.2179+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2548,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2548,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000687027.1:c.1771+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508715.1:n.1771+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4260,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4260,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000687863.1:n.4260+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000689464.1:c.665+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7978,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7978,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000691014.1:c.7645+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510595.1:n.7645+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3064,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3064,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000693617.1:c.2179+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510031.1:n.2179+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7948,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7948,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000358273.9:c.7615+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351015.4:n.7615+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.7615+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.7615+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:n.7615+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:n.7615+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7935,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7935,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000356175.7:c.7552+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348498.3:n.7552+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7998,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7998,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000358273.8:c.7615+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351015.4:n.7615+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6550,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 6550,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000456735.6:c.6550+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389907.2:n.6550+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 998,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 998,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000471572.6:c.998+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7751,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7751,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000579081.5:c.7751+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462408.1:n.7751+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 2097,
          "referenceAllele": "G",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000581790.5:c.600+2097G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7935,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7935,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_000267.3:c.7552+1G>A",
        "LRG_214t1:c.7552+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000258.1:n.7552+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7998,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7998,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.2:c.7615+1G>A",
        "LRG_214t2:c.7615+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:n.7615+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7948,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7948,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_005257983.1:c.7615+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258040.1:n.7615+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7885,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7885,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_005257984.1:c.7552+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258041.1:n.7552+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7978,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7978,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721922.1:c.7645+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721985.1:n.7645+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8245,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8245,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721923.2:c.7606+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721986.1:n.7606+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7978,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7978,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721924.1:c.7645+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721987.1:n.7645+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7915,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7915,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721925.1:c.7582+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721988.1:n.7582+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7978,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7978,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721926.2:c.7645+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721989.1:n.7645+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7978,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7978,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721927.1:c.7645+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721990.1:n.7645+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7975,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7975,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524852.1:c.7642+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523154.1:n.7642+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524853.1:c.7606+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523155.1:n.7606+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8471,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8471,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524854.1:c.7606+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523156.1:n.7606+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8503,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8503,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524855.1:c.7606+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523157.1:n.7606+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9181,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9181,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524856.1:c.7606+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523158.1:n.7606+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7978,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7978,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524857.1:c.7645+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523159.1:n.7645+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7948,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7948,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.3:c.7615+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:n.7615+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.7615+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.7615+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:n.7615+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:n.7615+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}