{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2255576469",
  "communityStandardTitle": [
    "NM_001042492.3(NF1):c.4558C= (p.Gln1520=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500242",
        "rs": 1060500242
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 31260496,
          "referenceAllele": "C",
          "start": 31260495
        }
      ],
      "hgvs": [
        "NC_000017.11:g.31260496C=",
        "CM000679.2:g.31260496C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 29587514,
          "referenceAllele": "C",
          "start": 29587513
        }
      ],
      "hgvs": [
        "NC_000017.10:g.29587514C=",
        "CM000679.1:g.29587514C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 26611640,
          "referenceAllele": "C",
          "start": 26611639
        }
      ],
      "hgvs": [
        "NC_000017.9:g.26611640C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 170520,
          "referenceAllele": "C",
          "start": 170519
        }
      ],
      "hgvs": [
        "NG_009018.1:g.170520C=",
        "LRG_214:g.170520C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001383"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000581113.7:c.346C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492721.2:p.Gln116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4923,
          "referenceAllele": "C",
          "start": 4922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696138.1:c.4540C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512431.1:p.Gln1514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696140.1:n.664C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696141.1:c.549C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000687863.1:n.1203C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4921,
          "referenceAllele": "C",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000691014.1:c.4588C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510595.1:p.Gln1530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "C",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000691649.1:n.1769C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4891,
          "referenceAllele": "C",
          "start": 4890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000358273.9:c.4558C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351015.4:p.Gln1520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.4558C="
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.4558C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:p.Gln1520="
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:p.Gln1520="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4878,
          "referenceAllele": "C",
          "start": 4877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000356175.7:c.4495C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348498.3:p.Gln1499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4941,
          "referenceAllele": "C",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000358273.8:c.4558C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351015.4:p.Gln1520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3493,
          "referenceAllele": "C",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000456735.6:c.3493C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389907.2:p.Gln1165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000466819.5:c.1074C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000479614.1:c.1011C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000493220.5:n.3031C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4597,
          "referenceAllele": "C",
          "start": 4596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000579081.5:c.4597C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462408.1:p.Gln1533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825129381",
      "coordinates": [
        {
          "allele": "C",
          "end": 4878,
          "referenceAllele": "C",
          "start": 4877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_000267.3:c.4495C=",
        "LRG_214t1:c.4495C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000258.1:p.Gln1499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825406731",
      "coordinates": [
        {
          "allele": "C",
          "end": 4941,
          "referenceAllele": "C",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.2:c.4558C=",
        "LRG_214t2:c.4558C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:p.Gln1520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4891,
          "referenceAllele": "C",
          "start": 4890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_005257983.1:c.4558C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258040.1:p.Gln1520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4828,
          "referenceAllele": "C",
          "start": 4827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_005257984.1:c.4495C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258041.1:p.Gln1499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4921,
          "referenceAllele": "C",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721922.1:c.4588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721985.1:p.Gln1530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5188,
          "referenceAllele": "C",
          "start": 5187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721923.2:c.4549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721986.1:p.Gln1517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4921,
          "referenceAllele": "C",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721924.1:c.4588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721987.1:p.Gln1530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4858,
          "referenceAllele": "C",
          "start": 4857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721925.1:c.4525C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721988.1:p.Gln1509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4921,
          "referenceAllele": "C",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721926.2:c.4588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721989.1:p.Gln1530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4921,
          "referenceAllele": "C",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721927.1:c.4588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721990.1:p.Gln1530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4921,
          "referenceAllele": "C",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721928.2:c.4588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721991.1:p.Gln1530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4918,
          "referenceAllele": "C",
          "start": 4917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524852.1:c.4585C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523154.1:p.Gln1529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6379,
          "referenceAllele": "C",
          "start": 6378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524853.1:c.4549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523155.1:p.Gln1517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5414,
          "referenceAllele": "C",
          "start": 5413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524854.1:c.4549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523156.1:p.Gln1517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5446,
          "referenceAllele": "C",
          "start": 5445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524855.1:c.4549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523157.1:p.Gln1517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6124,
          "referenceAllele": "C",
          "start": 6123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524856.1:c.4549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523158.1:p.Gln1517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4921,
          "referenceAllele": "C",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524857.1:c.4588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523159.1:p.Gln1530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825406731",
      "coordinates": [
        {
          "allele": "C",
          "end": 4891,
          "referenceAllele": "C",
          "start": 4890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.3:c.4558C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:p.Gln1520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.4558C="
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.4558C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:p.Gln1520="
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:p.Gln1520="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}