{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA437432405",
  "communityStandardTitle": [
    "NM_130837.3(OPA1):c.630G>C (p.Ala210=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.193336677G>C?assembly=hg19",
        "id": "chr3:g.193336677G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 193618888,
          "referenceAllele": "G",
          "start": 193618887
        }
      ],
      "hgvs": [
        "NC_000003.12:g.193618888G>C",
        "CM000665.2:g.193618888G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 193336677,
          "referenceAllele": "G",
          "start": 193336676
        }
      ],
      "hgvs": [
        "NC_000003.11:g.193336677G>C",
        "CM000665.1:g.193336677G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 194819371,
          "referenceAllele": "G",
          "start": 194819370
        }
      ],
      "hgvs": [
        "NC_000003.10:g.194819371G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30745,
          "referenceAllele": "G",
          "start": 30744
        }
      ],
      "hgvs": [
        "NG_011605.1:g.30745G>C",
        "LRG_337:g.30745G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361510.8:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355324.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361510.8:c.630G>C"
          },
          "RefSeq": {
            "hgvs": "NM_130837.3:c.630G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355324.2:p.Ala210="
          },
          "RefSeq": {
            "hgvs": "NP_570850.2:p.Ala210="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361828.7:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354429.3:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361908.8:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354681.3:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000392436.7:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376231.3:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000392437.6:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376232.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000434811.2:c.416G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000642289.1:c.671G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000642445.1:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495535.1:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000642593.1:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494273.1:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000643329.1:c.258G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493673.1:p.Ala86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000643737.1:c.*657G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494210.1:n.*657G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000644595.1:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494121.1:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "referenceAllele": "G",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000644629.1:c.236G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000644841.1:c.204G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493988.1:p.Ala68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000644959.1:c.545G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "G",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000645553.1:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494725.1:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768424"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "G",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646085.1:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494509.1:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646277.1:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495289.1:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646699.1:c.671G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646793.1:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494512.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361150.6:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354781.2:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361510.6:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355324.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361715.6:c.522G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355311.2:p.Ala174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361828.6:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354429.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361908.7:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354681.3:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000392436.6:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376231.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000392437.5:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376232.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000392438.7:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376233.3:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000419435.5:c.204G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399877.1:p.Ala68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "referenceAllele": "G",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000434811.1:c.329G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000487986.1:n.479G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 62,
          "referenceAllele": "G",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000497189.5:n.62G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829799610",
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_015560.2:c.576G>C",
        "LRG_337t1:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056375.2:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830179801",
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130831.2:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570844.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830180521",
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130832.2:c.522G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570845.1:p.Ala174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830181228",
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130833.2:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570846.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830182014",
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130834.2:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570847.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830182734",
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130835.2:c.522G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570848.1:p.Ala174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040429"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830183506",
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130836.2:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570849.2:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830184177",
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130837.2:c.630G>C",
        "LRG_337t2:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570850.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040431"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040421",
      "geneNCBI_id": 100873941,
      "geneSymbol": "OPA1-AS1",
      "hgvs": [
        "NR_046634.1:n.213C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512863.1:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511165.1:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512864.1:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511166.1:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512865.1:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511167.1:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512866.1:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511168.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512867.1:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511169.1:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512868.1:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511170.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512869.1:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511171.1:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827913789",
      "coordinates": [
        {
          "allele": "C",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_001354663.1:c.96G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341592.1:p.Ala32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522593"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827914382",
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "G",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_001354664.1:c.204G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341593.1:p.Ala68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XR_001740158.2:n.859G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XR_001740159.2:n.805G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827913789",
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_001354663.2:c.96G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341592.1:p.Ala32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827914382",
      "coordinates": [
        {
          "allele": "C",
          "end": 804,
          "referenceAllele": "G",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_001354664.2:c.204G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341593.1:p.Ala68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830179801",
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130831.3:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570844.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830180521",
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130832.3:c.522G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570845.1:p.Ala174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830182014",
      "coordinates": [
        {
          "allele": "C",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130834.3:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570847.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830183506",
      "coordinates": [
        {
          "allele": "C",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130836.3:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570849.2:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829799610",
      "coordinates": [
        {
          "allele": "C",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_015560.3:c.576G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056375.2:p.Ala192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830181228",
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130833.3:c.468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570846.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729086"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830182734",
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130835.3:c.522G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570848.1:p.Ala174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729087"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830184177",
      "coordinates": [
        {
          "allele": "C",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130837.3:c.630G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_570850.2:p.Ala210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361510.8:c.630G>C"
          },
          "RefSeq": {
            "hgvs": "NM_130837.3:c.630G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355324.2:p.Ala210="
          },
          "RefSeq": {
            "hgvs": "NP_570850.2:p.Ala210="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}