{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4728443",
  "communityStandardTitle": [
    "NM_000037.4(ANK1):c.1856G>A (p.Arg619His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3982541"
      },
      {
        "active": false,
        "id": "COSM3982542"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253129[alleleid]",
        "alleleId": 253129,
        "preferredName": "NM_000037.4(ANK1):c.1856G>A (p.Arg619His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261296",
        "RCV": [
          "RCV000244163",
          "RCV000363206",
          "RCV001163124",
          "RCV001706357"
        ],
        "variationId": 261296
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-41566438-C-T",
        "id": "8-41566438-C-T",
        "variant": "8:41566438 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.41566438C>T?assembly=hg19",
        "id": "chr8:g.41566438C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.41708920C>T?assembly=hg38",
        "id": "chr8:g.41708920C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2304877",
        "rs": 2304877
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-41566438-C-T?dataset=gnomad_r2_1",
        "id": "8-41566438-C-T",
        "variant": "8:41566438 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-41708920-C-T?dataset=gnomad_r3",
        "id": "8-41708920-C-T",
        "variant": "8:41708920 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-41708920-C-T?dataset=gnomad_r4",
        "id": "8-41708920-C-T",
        "variant": "8:41708920 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 41708920,
          "referenceAllele": "C",
          "start": 41708919
        }
      ],
      "hgvs": [
        "NC_000008.11:g.41708920C>T",
        "CM000670.2:g.41708920C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 41566438,
          "referenceAllele": "C",
          "start": 41566437
        }
      ],
      "hgvs": [
        "NC_000008.10:g.41566438C>T",
        "CM000670.1:g.41566438C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 41685595,
          "referenceAllele": "C",
          "start": 41685594
        }
      ],
      "hgvs": [
        "NC_000008.9:g.41685595C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192843,
          "referenceAllele": "G",
          "start": 192842
        }
      ],
      "hgvs": [
        "NG_012820.1:g.192843G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192843,
          "referenceAllele": "G",
          "start": 192842
        }
      ],
      "hgvs": [
        "NG_012820.2:g.192843G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2216,
          "referenceAllele": "G",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "ENST00000265709.14:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265709.8:p.Arg652His",
        "hgvsWellDefined": "ENSP00000265709.8:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2103,
          "referenceAllele": "G",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "ENST00000705521.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516136.1:p.Arg684His",
        "hgvsWellDefined": "ENSP00000516136.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "ENST00000705522.1:c.1868G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516137.1:p.Arg623His",
        "hgvsWellDefined": "ENSP00000516137.1:p.Arg623His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "ENST00000265709.13:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265709.8:p.Arg652His",
        "hgvsWellDefined": "ENSP00000265709.8:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "ENST00000289734.13:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289734.8:p.Arg619His",
        "hgvsWellDefined": "ENSP00000289734.8:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289734.13:c.1856G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000037.4:c.1856G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289734.8:p.Arg619His"
          },
          "RefSeq": {
            "hgvs": "NP_000028.3:p.Arg619His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "ENST00000265709.12:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265709.8:p.Arg652His",
        "hgvsWellDefined": "ENSP00000265709.8:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "ENST00000289734.11:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289734.7:p.Arg619His",
        "hgvsWellDefined": "ENSP00000289734.7:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "ENST00000347528.8:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339620.4:p.Arg619His",
        "hgvsWellDefined": "ENSP00000339620.4:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825010824",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_000037.3:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000028.3:p.Arg619His",
        "hgvsWellDefined": "NP_000028.3:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645494917",
      "coordinates": [
        {
          "allele": "A",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_001142446.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135918.1:p.Arg652His",
        "hgvsWellDefined": "NP_001135918.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829932479",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_020475.2:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065208.2:p.Arg619His",
        "hgvsWellDefined": "NP_065208.2:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829933508",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_020476.2:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065209.2:p.Arg619His",
        "hgvsWellDefined": "NP_065209.2:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036435"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829934485",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_020477.2:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065210.2:p.Arg619His",
        "hgvsWellDefined": "NP_065210.2:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_005273476.3:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273533.1:p.Arg652His",
        "hgvsWellDefined": "XP_005273533.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544490.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542792.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542792.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544491.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542793.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542793.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2050,
          "referenceAllele": "G",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544492.1:c.1952G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542794.1:p.Arg651His",
        "hgvsWellDefined": "XP_011542794.1:p.Arg651His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544493.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542795.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542795.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544494.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542796.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542796.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544495.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542797.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542797.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544496.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542798.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542798.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544497.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542799.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542799.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544498.1:c.1868G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542800.1:p.Arg623His",
        "hgvsWellDefined": "XP_011542800.1:p.Arg623His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2067,
          "referenceAllele": "G",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544499.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542801.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542801.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544500.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542802.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542802.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544501.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542803.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542803.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544502.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542804.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542804.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544503.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542805.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542805.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544504.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542806.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542806.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544505.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542807.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542807.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "referenceAllele": "G",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544506.1:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542808.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542808.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XR_949389.1:n.2070G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_005273476.4:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273533.1:p.Arg652His",
        "hgvsWellDefined": "XP_005273533.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544490.3:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542792.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542792.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2130,
          "referenceAllele": "G",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544491.3:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542793.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542793.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544494.3:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542796.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542796.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2130,
          "referenceAllele": "G",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544495.3:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542797.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542797.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2132,
          "referenceAllele": "G",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544496.3:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542798.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542798.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544500.2:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542802.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542802.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544501.2:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542803.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542803.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544502.2:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542804.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542804.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2129,
          "referenceAllele": "G",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544503.3:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542805.1:p.Arg684His",
        "hgvsWellDefined": "XP_011542805.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544504.2:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542806.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542806.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_011544505.2:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542807.1:p.Arg652His",
        "hgvsWellDefined": "XP_011542807.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013319.2:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868808.1:p.Arg684His",
        "hgvsWellDefined": "XP_016868808.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2133,
          "referenceAllele": "G",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013320.2:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868809.1:p.Arg684His",
        "hgvsWellDefined": "XP_016868809.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013321.1:c.1964G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868810.1:p.Arg655His",
        "hgvsWellDefined": "XP_016868810.1:p.Arg655His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013322.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868811.1:p.Arg652His",
        "hgvsWellDefined": "XP_016868811.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2056,
          "referenceAllele": "G",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013323.1:c.1952G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868812.1:p.Arg651His",
        "hgvsWellDefined": "XP_016868812.1:p.Arg651His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013324.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868813.1:p.Arg652His",
        "hgvsWellDefined": "XP_016868813.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "referenceAllele": "G",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013325.1:c.1868G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868814.1:p.Arg623His",
        "hgvsWellDefined": "XP_016868814.1:p.Arg623His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1974,
          "referenceAllele": "G",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013326.1:c.1868G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868815.1:p.Arg623His",
        "hgvsWellDefined": "XP_016868815.1:p.Arg623His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013327.2:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868816.1:p.Arg684His",
        "hgvsWellDefined": "XP_016868816.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2130,
          "referenceAllele": "G",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013328.2:c.2051G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868817.1:p.Arg684His",
        "hgvsWellDefined": "XP_016868817.1:p.Arg684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2212,
          "referenceAllele": "G",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_017013329.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868818.1:p.Arg652His",
        "hgvsWellDefined": "XP_016868818.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "XM_024447128.1:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302896.1:p.Arg619His",
        "hgvsWellDefined": "XP_024302896.1:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825010824",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_000037.4:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000028.3:p.Arg619His",
        "hgvsWellDefined": "NP_000028.3:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674673",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289734.13:c.1856G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000037.4:c.1856G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289734.8:p.Arg619His"
          },
          "RefSeq": {
            "hgvs": "NP_000028.3:p.Arg619His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645494917",
      "coordinates": [
        {
          "allele": "A",
          "end": 2216,
          "referenceAllele": "G",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_001142446.2:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135918.1:p.Arg652His",
        "hgvsWellDefined": "NP_001135918.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829932479",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_020475.3:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065208.2:p.Arg619His",
        "hgvsWellDefined": "NP_065208.2:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829933508",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_020476.3:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065209.2:p.Arg619His",
        "hgvsWellDefined": "NP_065209.2:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829934485",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000492",
      "geneNCBI_id": 286,
      "geneSymbol": "ANK1",
      "hgvs": [
        "NM_020477.3:c.1856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065210.2:p.Arg619His",
        "hgvsWellDefined": "NP_065210.2:p.Arg619His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698249"
    }
  ],
  "type": "nucleotide"
}