{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA408557737",
  "communityStandardTitle": [
    "NM_015338.6(ASXL1):c.1720-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1318069[alleleid]",
        "alleleId": 1318069,
        "preferredName": "NM_015338.6(ASXL1):c.1720-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1327496",
        "RCV": [
          "RCV001789724"
        ],
        "variationId": 1327496
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.31022234G>T?assembly=hg19",
        "id": "chr20:g.31022234G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.32434431G>T?assembly=hg38",
        "id": "chr20:g.32434431G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1254271466",
        "rs": 1254271466
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-31022234-G-T?dataset=gnomad_r2_1",
        "id": "20-31022234-G-T",
        "variant": "20:31022234 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-32434431-G-T?dataset=gnomad_r4",
        "id": "20-32434431-G-T",
        "variant": "20:32434431 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 32434431,
          "referenceAllele": "G",
          "start": 32434430
        }
      ],
      "hgvs": [
        "NC_000020.11:g.32434431G>T",
        "CM000682.2:g.32434431G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 31022234,
          "referenceAllele": "G",
          "start": 31022233
        }
      ],
      "hgvs": [
        "NC_000020.10:g.31022234G>T",
        "CM000682.1:g.31022234G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 30485895,
          "referenceAllele": "G",
          "start": 30485894
        }
      ],
      "hgvs": [
        "NC_000020.9:g.30485895G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81088,
          "referenceAllele": "G",
          "start": 81087
        }
      ],
      "hgvs": [
        "NG_027868.1:g.81088G>T",
        "LRG_630:g.81088G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003997"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2164,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2164,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000375687.10:c.1720-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364839.4:n.1720-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375687.10:c.1720-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_015338.6:c.1720-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364839.4:n.1720-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_056153.2:n.1720-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1261,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000644168.1:n.1262-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1779,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000646985.1:c.1537-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495053.1:n.1537-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4072,
          "referenceAllele": "G",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000647223.1:n.4072G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2165,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2165,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000651418.1:c.1720-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499150.1:n.1720-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1704,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1704,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000306058.9:c.1705-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305119.5:n.1705-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000375687.8:c.1720-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364839.4:n.1720-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2151,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000613218.4:c.1720-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480487.1:n.1720-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1914,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1914,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000620121.4:c.1720-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481978.1:n.1720-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2151,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "NM_015338.5:c.1720-1G>T",
        "LRG_630t1:c.1720-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056153.2:n.1720-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1783,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723727.2:c.1717-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723790.1:n.1717-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1760,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723728.2:c.1690-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723791.1:n.1690-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1957,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1957,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723730.2:c.1636-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723793.1:n.1636-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1779,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723732.2:c.1537-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723795.1:n.1537-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1785,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723733.1:c.1036-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723796.1:n.1036-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2015,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2015,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528647.1:c.1984-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526949.1:n.1984-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2012,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528648.1:c.1981-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526950.1:n.1981-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1931,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1931,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528649.1:c.1900-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526951.1:n.1900-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1862,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1862,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528650.1:c.1831-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526952.1:n.1831-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1723,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1723,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528651.1:c.1699-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526953.1:n.1699-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2478,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528652.1:c.1636-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526954.1:n.1636-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1779,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "NM_001363734.1:c.1537-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350663.1:n.1537-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2430,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2430,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723727.3:c.1717-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723790.1:n.1717-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1760,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723728.3:c.1690-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723791.1:n.1690-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2068,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2068,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723730.4:c.1636-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723793.1:n.1636-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1995,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528648.3:c.1981-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526950.1:n.1981-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3093,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3093,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528652.2:c.1636-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526954.1:n.1636-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3216,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3216,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_017027704.1:c.1636-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883193.1:n.1636-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2229,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2229,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_017027705.1:c.1636-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883194.1:n.1636-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2280,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_017027706.1:c.1567-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883195.1:n.1567-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2164,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2164,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "NM_015338.6:c.1720-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056153.2:n.1720-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375687.10:c.1720-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_015338.6:c.1720-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364839.4:n.1720-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_056153.2:n.1720-1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}