{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2255566065",
  "communityStandardTitle": [
    "NM_001042492.3(NF1):c.2848C= (p.Gln950=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500357",
        "rs": 1060500357
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1135402833",
        "rs": 1135402833
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 31229463,
          "referenceAllele": "C",
          "start": 31229462
        }
      ],
      "hgvs": [
        "NC_000017.11:g.31229463C=",
        "CM000679.2:g.31229463C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 29556481,
          "referenceAllele": "C",
          "start": 29556480
        }
      ],
      "hgvs": [
        "NC_000017.10:g.29556481C=",
        "CM000679.1:g.29556481C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 26580607,
          "referenceAllele": "C",
          "start": 26580606
        }
      ],
      "hgvs": [
        "NC_000017.9:g.26580607C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 139487,
          "referenceAllele": "C",
          "start": 139486
        }
      ],
      "hgvs": [
        "NG_009018.1:g.139487C=",
        "LRG_214:g.139487C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001383"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3276,
          "referenceAllele": "C",
          "start": 3275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696138.1:c.2893C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512431.1:p.Gln965="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000696139.1:c.193C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512432.1:p.Gln65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000691014.1:c.2878C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510595.1:p.Gln960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000358273.9:c.2848C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351015.4:p.Gln950="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.2848C="
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.2848C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:p.Gln950="
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:p.Gln950="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3231,
          "referenceAllele": "C",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000356175.7:c.2848C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348498.3:p.Gln950="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3231,
          "referenceAllele": "C",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000358273.8:c.2848C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351015.4:p.Gln950="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000456735.6:c.1846C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389907.2:p.Gln616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000493220.5:n.1015C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2623,
          "referenceAllele": "C",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000495910.6:c.2623C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2950,
          "referenceAllele": "C",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "ENST00000579081.5:c.2950C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462408.1:p.Gln984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825126785",
      "coordinates": [
        {
          "allele": "C",
          "end": 3231,
          "referenceAllele": "C",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_000267.3:c.2848C=",
        "LRG_214t1:c.2848C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000258.1:p.Gln950="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825406401",
      "coordinates": [
        {
          "allele": "C",
          "end": 3231,
          "referenceAllele": "C",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.2:c.2848C=",
        "LRG_214t2:c.2848C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:p.Gln950="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_005257983.1:c.2848C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258040.1:p.Gln950="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_005257984.1:c.2848C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258041.1:p.Gln950="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721922.1:c.2878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721985.1:p.Gln960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3478,
          "referenceAllele": "C",
          "start": 3477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721923.2:c.2839C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721986.1:p.Gln947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721924.1:c.2878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721987.1:p.Gln960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721925.1:c.2878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721988.1:p.Gln960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721926.2:c.2878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721989.1:p.Gln960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721927.1:c.2878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721990.1:p.Gln960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_006721928.2:c.2878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721991.1:p.Gln960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3208,
          "referenceAllele": "C",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524852.1:c.2875C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523154.1:p.Gln959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4669,
          "referenceAllele": "C",
          "start": 4668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524853.1:c.2839C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523155.1:p.Gln947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3704,
          "referenceAllele": "C",
          "start": 3703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524854.1:c.2839C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523156.1:p.Gln947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3736,
          "referenceAllele": "C",
          "start": 3735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524855.1:c.2839C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523157.1:p.Gln947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4414,
          "referenceAllele": "C",
          "start": 4413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524856.1:c.2839C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523158.1:p.Gln947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "XM_011524857.1:c.2878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523159.1:p.Gln960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825406401",
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.3:c.2848C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:p.Gln950="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.2848C="
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.2848C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:p.Gln950="
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:p.Gln950="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}