{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2277811241",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.594G= (p.Pro198=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1426823689",
        "rs": 1426823689
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 80105796,
          "referenceAllele": "G",
          "start": 80105795
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80105796G=",
        "CM000679.2:g.80105796G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 78079595,
          "referenceAllele": "G",
          "start": 78079594
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78079595G=",
        "CM000679.1:g.78079595G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75694190,
          "referenceAllele": "G",
          "start": 75694189
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75694190G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9241,
          "referenceAllele": "G",
          "start": 9240
        }
      ],
      "hgvs": [
        "NG_009822.1:g.9241G=",
        "LRG_673:g.9241G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.594G="
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.594G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Pro198="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Pro198="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.5:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.5:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065145",
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.594G=",
        "LRG_673t1:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460193",
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "G",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464158",
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065145",
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460193",
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "G",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464158",
      "coordinates": [
        {
          "allele": "G",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065145",
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.594G="
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.594G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Pro198="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Pro198="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460193",
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464158",
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}