{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8618420",
  "communityStandardTitle": [
    "NM_015443.4(KANSL1):c.2900C>A (p.Pro967His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1530834[alleleid]",
        "alleleId": 1530834,
        "preferredName": "NM_015443.4(KANSL1):c.2900C>A (p.Pro967His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1627616",
        "RCV": [
          "RCV002114234",
          "RCV003269129"
        ],
        "variationId": 1627616
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-44109603-G-T",
        "id": "17-44109603-G-T",
        "variant": "17:44109603 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44109603G>T?assembly=hg19",
        "id": "chr17:g.44109603G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46032237G>T?assembly=hg38",
        "id": "chr17:g.46032237G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770177501",
        "rs": 770177501
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44109603-G-T?dataset=gnomad_r2_1",
        "id": "17-44109603-G-T",
        "variant": "17:44109603 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46032237-G-T?dataset=gnomad_r3",
        "id": "17-46032237-G-T",
        "variant": "17:46032237 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46032237-G-T?dataset=gnomad_r4",
        "id": "17-46032237-G-T",
        "variant": "17:46032237 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 46032237,
          "referenceAllele": "G",
          "start": 46032236
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46032237G>T",
        "CM000679.2:g.46032237G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44109603,
          "referenceAllele": "G",
          "start": 44109602
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44109603G>T",
        "CM000679.1:g.44109603G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41465450,
          "referenceAllele": "G",
          "start": 41465449
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41465450G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198138,
          "referenceAllele": "C",
          "start": 198137
        }
      ],
      "hgvs": [
        "NG_032784.1:g.198138C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005220"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3596,
          "referenceAllele": "C",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.7:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.3:p.Pro967His",
        "hgvsWellDefined": "ENSP00000387393.3:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.2900C>A"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.2900C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Pro967His"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Pro967His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2995,
          "referenceAllele": "C",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.6:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Pro967His",
        "hgvsWellDefined": "ENSP00000461484.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3169,
          "referenceAllele": "C",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.6:c.2897C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.2:p.Pro966His",
        "hgvsWellDefined": "ENSP00000461812.2:p.Pro966His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2958,
          "referenceAllele": "C",
          "start": 2957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.6:c.2708C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Pro903His",
        "hgvsWellDefined": "ENSP00000461299.1:p.Pro903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3375,
          "referenceAllele": "C",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638275.1:c.2708C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492576.1:p.Pro903His",
        "hgvsWellDefined": "ENSP00000492576.1:p.Pro903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "C",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638291.1:n.728C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638551.1:n.848C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639467.1:c.557C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492741.1:p.Pro186His",
        "hgvsWellDefined": "ENSP00000492741.1:p.Pro186His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "C",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639805.1:n.317C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3093,
          "endIntronDirection": "-",
          "endIntronOffset": 69,
          "referenceAllele": "C",
          "start": 3093,
          "startIntronDirection": "-",
          "startIntronOffset": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000648792.1:c.2838-70C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497628.1:n.2838-70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3371,
          "referenceAllele": "C",
          "start": 3370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000262419.10:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262419.6:p.Pro967His",
        "hgvsWellDefined": "ENSP00000262419.6:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3154,
          "referenceAllele": "C",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.5:c.2897C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.2:p.Pro966His",
        "hgvsWellDefined": "ENSP00000387393.2:p.Pro966His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7117,
          "referenceAllele": "C",
          "start": 7116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572218.5:n.7117C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3073,
          "referenceAllele": "C",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.5:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Pro967His",
        "hgvsWellDefined": "ENSP00000461484.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000573682.1:n.286C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "C",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.5:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.1:p.Pro967His",
        "hgvsWellDefined": "ENSP00000461812.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "C",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574963.1:n.330C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2742,
          "referenceAllele": "C",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.5:c.2708C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Pro903His",
        "hgvsWellDefined": "ENSP00000461299.1:p.Pro903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000576870.5:n.872C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185578",
      "coordinates": [
        {
          "allele": "A",
          "end": 3154,
          "referenceAllele": "C",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.1:c.2897C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Pro966His",
        "hgvsWellDefined": "NP_001180394.1:p.Pro966His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826186262",
      "coordinates": [
        {
          "allele": "A",
          "end": 3371,
          "referenceAllele": "C",
          "start": 3370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.1:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Pro967His",
        "hgvsWellDefined": "NP_001180395.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573267809",
      "coordinates": [
        {
          "allele": "A",
          "end": 3073,
          "referenceAllele": "C",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.3:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Pro967His",
        "hgvsWellDefined": "NP_056258.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3157,
          "referenceAllele": "C",
          "start": 3156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.1:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Pro967His",
        "hgvsWellDefined": "XP_006721886.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3348,
          "referenceAllele": "C",
          "start": 3347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.2:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Pro967His",
        "hgvsWellDefined": "XP_006721887.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3345,
          "referenceAllele": "C",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.1:c.2897C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Pro966His",
        "hgvsWellDefined": "XP_011522930.1:p.Pro966His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3246,
          "referenceAllele": "C",
          "start": 3245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.1:c.2798C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Pro933His",
        "hgvsWellDefined": "XP_011522931.1:p.Pro933His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.1:c.2711C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Pro904His",
        "hgvsWellDefined": "XP_011522932.1:p.Pro904His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3156,
          "referenceAllele": "C",
          "start": 3155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.1:c.2708C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Pro903His",
        "hgvsWellDefined": "XP_011522933.1:p.Pro903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "C",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.1:c.1670C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Pro557His",
        "hgvsWellDefined": "XP_011522934.1:p.Pro557His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3153,
          "referenceAllele": "C",
          "start": 3152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.2:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Pro967His",
        "hgvsWellDefined": "XP_006721886.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3466,
          "referenceAllele": "C",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.4:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Pro967His",
        "hgvsWellDefined": "XP_006721887.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3463,
          "referenceAllele": "C",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.3:c.2897C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Pro966His",
        "hgvsWellDefined": "XP_011522930.1:p.Pro966His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3364,
          "referenceAllele": "C",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.3:c.2798C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Pro933His",
        "hgvsWellDefined": "XP_011522931.1:p.Pro933His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3277,
          "referenceAllele": "C",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.3:c.2711C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Pro904His",
        "hgvsWellDefined": "XP_011522932.1:p.Pro904His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3274,
          "referenceAllele": "C",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.3:c.2708C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Pro903His",
        "hgvsWellDefined": "XP_011522933.1:p.Pro903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "referenceAllele": "C",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.3:c.1670C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Pro557His",
        "hgvsWellDefined": "XP_011522934.1:p.Pro557His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2961,
          "referenceAllele": "C",
          "start": 2960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024488.2:c.2708C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879977.1:p.Pro903His",
        "hgvsWellDefined": "XP_016879977.1:p.Pro903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826186262",
      "coordinates": [
        {
          "allele": "A",
          "end": 3353,
          "referenceAllele": "C",
          "start": 3352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.2:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Pro967His",
        "hgvsWellDefined": "NP_001180395.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573267809",
      "coordinates": [
        {
          "allele": "A",
          "end": 3596,
          "referenceAllele": "C",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.4:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Pro967His",
        "hgvsWellDefined": "NP_056258.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.2900C>A"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.2900C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Pro967His"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Pro967His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185578",
      "coordinates": [
        {
          "allele": "A",
          "end": 3147,
          "referenceAllele": "C",
          "start": 3146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.2:c.2897C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Pro966His",
        "hgvsWellDefined": "NP_001180394.1:p.Pro966His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828815386",
      "coordinates": [
        {
          "allele": "A",
          "end": 3150,
          "referenceAllele": "C",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001379198.1:c.2900C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366127.1:p.Pro967His",
        "hgvsWellDefined": "NP_001366127.1:p.Pro967His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721930"
    }
  ],
  "type": "nucleotide"
}