{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1321196262",
  "communityStandardTitle": [
    "NM_020919.4(ALS2):c.1102G= (p.Val368=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3219156",
        "rs": 3219156
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 201760892,
          "referenceAllele": "C",
          "start": 201760891
        }
      ],
      "hgvs": [
        "NC_000002.12:g.201760892C=",
        "CM000664.2:g.201760892C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 202625615,
          "referenceAllele": "C",
          "start": 202625614
        }
      ],
      "hgvs": [
        "NC_000002.11:g.202625615C=",
        "CM000664.1:g.202625615C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 202333860,
          "referenceAllele": "C",
          "start": 202333859
        }
      ],
      "hgvs": [
        "NC_000002.10:g.202333860C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25281,
          "referenceAllele": "G",
          "start": 25280
        }
      ],
      "hgvs": [
        "NG_008775.1:g.25281G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001208"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1219,
          "referenceAllele": "G",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000264276.11:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264276.6:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264276.11:c.1102G="
          },
          "RefSeq": {
            "hgvs": "NM_020919.4:c.1102G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264276.6:p.Val368="
          },
          "RefSeq": {
            "hgvs": "NP_065970.2:p.Val368="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1238,
          "referenceAllele": "G",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000409632.7:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386384.3:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000482789.6:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000482891.6:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679416.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679435.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505218.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679503.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505968.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679516.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505187.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1502,
          "referenceAllele": "G",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679550.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506193.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679618.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506274.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679630.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679686.1:n.1216G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679701.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679728.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504981.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679916.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506172.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679939.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505704.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679949.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505232.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680000.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506173.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680135.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506211.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680149.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506497.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1486,
          "referenceAllele": "G",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680163.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505092.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680174.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680188.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505665.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680236.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506212.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680287.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506547.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680497.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505954.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680508.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505749.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680569.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505522.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680630.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680644.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505738.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680726.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505505.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680737.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680759.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505848.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680814.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505710.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680828.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505249.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680861.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505043.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680927.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505473.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680939.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681144.1:c.*1070G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505348.1:n.*1070G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2062,
          "referenceAllele": "G",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681152.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505388.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681250.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505684.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681256.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505446.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681279.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681303.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505576.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780914"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681307.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780918"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681312.1:c.1015G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506656.1:p.Val339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681378.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681461.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681619.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505071.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681716.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505078.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681758.1:n.1444G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681768.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506311.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681808.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505219.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "G",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000264276.10:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264276.6:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000467448.5:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429223.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000482789.5:n.1242G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000482891.5:n.1242G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_001135745.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129217.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066503267",
      "coordinates": [
        {
          "allele": "G",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_020919.3:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065970.2:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_005246709.2:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246766.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712654.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712717.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_011511530.1:c.763G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509832.1:p.Val255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_011511531.1:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509833.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078792"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_922974.1:n.1237G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2062,
          "referenceAllele": "G",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712654.3:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712717.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004569.2:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860058.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004570.2:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860059.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004572.2:c.-1384G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860061.1:n.-1384G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "referenceAllele": "G",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_024453024.1:c.763G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308792.1:p.Val255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_024453025.1:c.-901G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308793.1:n.-901G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738864.2:n.1237G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738865.2:n.1237G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738866.2:n.1237G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738867.2:n.1237G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_002959320.1:n.355G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066503267",
      "coordinates": [
        {
          "allele": "G",
          "end": 1219,
          "referenceAllele": "G",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_020919.4:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065970.2:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264276.11:c.1102G="
          },
          "RefSeq": {
            "hgvs": "NM_020919.4:c.1102G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264276.6:p.Val368="
          },
          "RefSeq": {
            "hgvs": "NP_065970.2:p.Val368="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1219,
          "referenceAllele": "G",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_001135745.2:c.1102G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129217.1:p.Val368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677340"
    }
  ],
  "type": "nucleotide"
}