{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1321156512",
  "communityStandardTitle": [
    "NM_020919.4(ALS2):c.4897C= (p.Gln1633=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044934",
        "rs": 797044934
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 201704160,
          "referenceAllele": "G",
          "start": 201704159
        }
      ],
      "hgvs": [
        "NC_000002.12:g.201704160G=",
        "CM000664.2:g.201704160G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 202568883,
          "referenceAllele": "G",
          "start": 202568882
        }
      ],
      "hgvs": [
        "NC_000002.11:g.202568883G=",
        "CM000664.1:g.202568883G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 202277128,
          "referenceAllele": "G",
          "start": 202277127
        }
      ],
      "hgvs": [
        "NC_000002.10:g.202277128G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82013,
          "referenceAllele": "C",
          "start": 82012
        }
      ],
      "hgvs": [
        "NG_008775.1:g.82013C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001208"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5014,
          "referenceAllele": "C",
          "start": 5013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000264276.11:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264276.6:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264276.11:c.4897C="
          },
          "RefSeq": {
            "hgvs": "NM_020919.4:c.4897C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264276.6:p.Gln1633="
          },
          "RefSeq": {
            "hgvs": "NP_065970.2:p.Gln1633="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3138,
          "referenceAllele": "C",
          "start": 3137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000439495.6:c.*1077C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403832.2:n.*1077C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3516,
          "referenceAllele": "C",
          "start": 3515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679409.1:c.*1602C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506531.1:n.*1602C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6401,
          "referenceAllele": "C",
          "start": 6400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679416.1:n.6401C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2568,
          "referenceAllele": "C",
          "start": 2567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679427.1:n.2568C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5239,
          "referenceAllele": "C",
          "start": 5238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679435.1:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505218.1:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5155,
          "referenceAllele": "C",
          "start": 5154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679516.1:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505187.1:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5243,
          "referenceAllele": "C",
          "start": 5242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679618.1:c.*1985C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506274.1:n.*1985C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6746,
          "referenceAllele": "C",
          "start": 6745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679630.1:n.6746C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679635.1:n.3159C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5011,
          "referenceAllele": "C",
          "start": 5010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679686.1:n.5011C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7889,
          "referenceAllele": "C",
          "start": 7888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679701.1:n.7889C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5382,
          "referenceAllele": "C",
          "start": 5381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679916.1:c.*1245C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506172.1:n.*1245C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5239,
          "referenceAllele": "C",
          "start": 5238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680000.1:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506173.1:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5174,
          "referenceAllele": "C",
          "start": 5173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680135.1:c.*2858C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506211.1:n.*2858C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5216,
          "referenceAllele": "C",
          "start": 5215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680149.1:c.*179C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506497.1:n.*179C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5281,
          "referenceAllele": "C",
          "start": 5280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680163.1:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505092.1:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5588,
          "referenceAllele": "C",
          "start": 5587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680174.1:n.5588C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5168,
          "referenceAllele": "C",
          "start": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680236.1:c.*1958C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506212.1:n.*1958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680404.1:n.412C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3455,
          "referenceAllele": "C",
          "start": 3454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680441.1:n.3455C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5257,
          "referenceAllele": "C",
          "start": 5256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680497.1:c.4999C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505954.1:p.Gln1667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5258,
          "referenceAllele": "C",
          "start": 5257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680508.1:c.*53C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505749.1:n.*53C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5561,
          "referenceAllele": "C",
          "start": 5560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680569.1:c.*2840C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505522.1:n.*2840C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680634.1:n.1405C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2697,
          "referenceAllele": "C",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680722.1:n.2697C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5219,
          "referenceAllele": "C",
          "start": 5218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680726.1:c.*179C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505505.1:n.*179C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5071,
          "referenceAllele": "C",
          "start": 5070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680759.1:c.4729C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505848.1:p.Gln1577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5180,
          "endIntronDirection": "+",
          "endIntronOffset": 294,
          "referenceAllele": "C",
          "start": 5180,
          "startIntronDirection": "+",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680814.1:c.4838+294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505710.1:n.4838+294C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5180,
          "referenceAllele": "C",
          "start": 5179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680828.1:c.*2591C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505249.1:n.*2591C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5388,
          "referenceAllele": "C",
          "start": 5387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680861.1:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505043.1:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5361,
          "referenceAllele": "C",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680927.1:c.*1077C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505473.1:n.*1077C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6838,
          "referenceAllele": "C",
          "start": 6837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680939.1:n.6838C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3462,
          "referenceAllele": "C",
          "start": 3461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681250.1:c.*1614C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505684.1:n.*1614C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5309,
          "referenceAllele": "C",
          "start": 5308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681256.1:c.*2912C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505446.1:n.*2912C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5763,
          "referenceAllele": "C",
          "start": 5762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681279.1:n.5763C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681307.1:n.6010C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5665,
          "referenceAllele": "C",
          "start": 5664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681461.1:n.5665C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2875,
          "referenceAllele": "C",
          "start": 2874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681495.1:c.2434C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506085.1:p.Gln812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3016,
          "referenceAllele": "C",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681558.1:c.2575C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505568.1:p.Gln859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5236,
          "referenceAllele": "C",
          "start": 5235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681619.1:c.4894C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505071.1:p.Gln1632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681663.1:n.1803C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2857,
          "referenceAllele": "C",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681692.1:n.2857C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5472,
          "referenceAllele": "C",
          "start": 5471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681716.1:c.*2751C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505078.1:n.*2751C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5342,
          "referenceAllele": "C",
          "start": 5341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681768.1:c.*2561C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506311.1:n.*2561C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5062,
          "referenceAllele": "C",
          "start": 5061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681808.1:c.4720C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505219.1:p.Gln1574="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5270,
          "referenceAllele": "C",
          "start": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000264276.10:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264276.6:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3001,
          "referenceAllele": "C",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000439495.5:c.3001C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS295450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829935964",
      "coordinates": [
        {
          "allele": "C",
          "end": 5253,
          "referenceAllele": "C",
          "start": 5252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_020919.3:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065970.2:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5029,
          "referenceAllele": "C",
          "start": 5028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_005246709.2:c.4894C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246766.1:p.Gln1632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5062,
          "referenceAllele": "C",
          "start": 5061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712654.1:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712717.1:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2988,
          "referenceAllele": "C",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712655.2:c.2833C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712718.1:p.Gln945="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4976,
          "referenceAllele": "C",
          "start": 4975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_011511530.1:c.4558C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509832.1:p.Gln1520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5175,
          "referenceAllele": "C",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_922974.1:n.5175C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712654.3:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712717.1:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3467,
          "referenceAllele": "C",
          "start": 3466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712655.3:c.2833C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712718.1:p.Gln945="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5029,
          "referenceAllele": "C",
          "start": 5028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004569.2:c.4894C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860058.1:p.Gln1632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4253,
          "referenceAllele": "C",
          "start": 4252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004572.2:c.2515C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860061.1:p.Gln839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5409,
          "referenceAllele": "C",
          "start": 5408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_024453024.1:c.4558C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308792.1:p.Gln1520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4085,
          "referenceAllele": "C",
          "start": 4084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_024453025.1:c.2830C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308793.1:p.Gln944="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5012,
          "referenceAllele": "C",
          "start": 5011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738864.2:n.5012C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5009,
          "referenceAllele": "C",
          "start": 5008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738865.2:n.5009C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5175,
          "referenceAllele": "C",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738866.2:n.5175C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5172,
          "referenceAllele": "C",
          "start": 5171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738867.2:n.5172C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4068,
          "referenceAllele": "C",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_002959320.1:n.4068C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829935964",
      "coordinates": [
        {
          "allele": "C",
          "end": 5014,
          "referenceAllele": "C",
          "start": 5013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_020919.4:c.4897C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065970.2:p.Gln1633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264276.11:c.4897C="
          },
          "RefSeq": {
            "hgvs": "NM_020919.4:c.4897C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264276.6:p.Gln1633="
          },
          "RefSeq": {
            "hgvs": "NP_065970.2:p.Gln1633="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}