{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8576277",
  "communityStandardTitle": [
    "NM_001130021.3(ATP6V0A1):c.1286G>A (p.Arg429Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4664452"
      },
      {
        "active": false,
        "id": "COSM4664453"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3297626[alleleid]",
        "alleleId": 3297626,
        "preferredName": "NM_001130021.3(ATP6V0A1):c.1286G>A (p.Arg429Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3131845",
        "RCV": [
          "RCV004418704"
        ],
        "variationId": 3131845
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-40646463-G-A",
        "id": "17-40646463-G-A",
        "variant": "17:40646463 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40646463G>A?assembly=hg19",
        "id": "chr17:g.40646463G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42494445G>A?assembly=hg38",
        "id": "chr17:g.42494445G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146036659",
        "rs": 146036659
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40646463-G-A?dataset=gnomad_r2_1",
        "id": "17-40646463-G-A",
        "variant": "17:40646463 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42494445-G-A?dataset=gnomad_r3",
        "id": "17-42494445-G-A",
        "variant": "17:42494445 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42494445-G-A?dataset=gnomad_r4",
        "id": "17-42494445-G-A",
        "variant": "17:42494445 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42494445,
          "referenceAllele": "G",
          "start": 42494444
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42494445G>A",
        "CM000679.2:g.42494445G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 40646463,
          "referenceAllele": "G",
          "start": 40646462
        }
      ],
      "hgvs": [
        "NC_000017.10:g.40646463G>A",
        "CM000679.1:g.40646463G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37899989,
          "referenceAllele": "G",
          "start": 37899988
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37899989G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40602,
          "referenceAllele": "G",
          "start": 40601
        }
      ],
      "hgvs": [
        "NG_047037.1:g.40602G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "referenceAllele": "G",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000586201.6:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468177.2:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000468177.2:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "referenceAllele": "G",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000588138.2:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466852.2:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000466852.2:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000588901.6:c.*1009G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468001.1:n.*1009G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "referenceAllele": "G",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000589759.2:c.*1175G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515532.1:n.*1175G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1548,
          "referenceAllele": "G",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000592324.2:c.1409G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466767.2:p.Arg470Gln",
        "hgvsWellDefined": "ENSP00000466767.2:p.Arg470Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "referenceAllele": "G",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703888.1:c.1430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515525.1:p.Arg477Gln",
        "hgvsWellDefined": "ENSP00000515525.1:p.Arg477Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "G",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703889.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515526.1:p.Arg436Gln",
        "hgvsWellDefined": "ENSP00000515526.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "G",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703890.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515527.1:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000515527.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1308,
          "referenceAllele": "G",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703891.1:c.*981G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515528.1:n.*981G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703892.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515529.1:p.Arg436Gln",
        "hgvsWellDefined": "ENSP00000515529.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703893.1:c.1178G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515530.1:p.Arg393Gln",
        "hgvsWellDefined": "ENSP00000515530.1:p.Arg393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703894.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515531.1:p.Arg436Gln",
        "hgvsWellDefined": "ENSP00000515531.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1303,
          "referenceAllele": "G",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703895.1:c.*984G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515533.1:n.*984G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703896.1:c.1289G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515534.1:p.Arg430Gln",
        "hgvsWellDefined": "ENSP00000515534.1:p.Arg430Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703897.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515535.1:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000515535.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703898.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515536.1:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000515536.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1361,
          "referenceAllele": "G",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703899.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515537.1:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000515537.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703900.1:c.1160G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515538.1:p.Arg387Gln",
        "hgvsWellDefined": "ENSP00000515538.1:p.Arg387Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "G",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703901.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515539.1:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000515539.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "referenceAllele": "G",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703902.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515540.1:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000515540.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000703903.1:c.104G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515541.1:p.Arg35Gln",
        "hgvsWellDefined": "ENSP00000515541.1:p.Arg35Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000343619.9:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342951.3:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000342951.3:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748153",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343619.9:c.1286G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130021.3:c.1286G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342951.3:p.Arg429Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001123493.1:p.Arg429Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000264649.10:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264649.5:p.Arg436Gln",
        "hgvsWellDefined": "ENSP00000264649.5:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000343619.8:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342951.3:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000342951.3:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000393829.6:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377415.2:p.Arg429Gln",
        "hgvsWellDefined": "ENSP00000377415.2:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000537728.5:c.1157G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443991.1:p.Arg386Gln",
        "hgvsWellDefined": "ENSP00000443991.1:p.Arg386Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000544137.5:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446377.1:p.Arg75Gln",
        "hgvsWellDefined": "ENSP00000446377.1:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1280,
          "referenceAllele": "G",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000585525.5:c.1157G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466878.1:p.Arg386Gln",
        "hgvsWellDefined": "ENSP00000466878.1:p.Arg386Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "ENST00000586315.1:n.213G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825736653",
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "referenceAllele": "G",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001130020.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123492.1:p.Arg436Gln",
        "hgvsWellDefined": "NP_001123492.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825736694",
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001130021.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123493.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001123493.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829589068",
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_005177.3:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005168.2:p.Arg429Gln",
        "hgvsWellDefined": "NP_005168.2:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_005257459.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257516.1:p.Arg436Gln",
        "hgvsWellDefined": "XP_005257516.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_005257461.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257518.1:p.Arg436Gln",
        "hgvsWellDefined": "XP_005257518.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_005257463.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257520.1:p.Arg436Gln",
        "hgvsWellDefined": "XP_005257520.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_011524908.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523210.1:p.Arg436Gln",
        "hgvsWellDefined": "XP_011523210.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_934483.1:n.1456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_934484.1:n.1456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_005257459.2:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257516.1:p.Arg436Gln",
        "hgvsWellDefined": "XP_005257516.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_005257461.2:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257518.1:p.Arg436Gln",
        "hgvsWellDefined": "XP_005257518.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_005257463.3:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257520.1:p.Arg436Gln",
        "hgvsWellDefined": "XP_005257520.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_011524908.2:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523210.1:p.Arg436Gln",
        "hgvsWellDefined": "XP_011523210.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_017024769.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880258.1:p.Arg429Gln",
        "hgvsWellDefined": "XP_016880258.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_017024770.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880259.1:p.Arg429Gln",
        "hgvsWellDefined": "XP_016880259.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_017024771.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880260.1:p.Arg429Gln",
        "hgvsWellDefined": "XP_016880260.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "referenceAllele": "G",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_017024772.2:c.518G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880261.1:p.Arg173Gln",
        "hgvsWellDefined": "XP_016880261.1:p.Arg173Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "referenceAllele": "G",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_017024773.2:c.518G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880262.1:p.Arg173Gln",
        "hgvsWellDefined": "XP_016880262.1:p.Arg173Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XM_017024774.2:c.518G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880263.1:p.Arg173Gln",
        "hgvsWellDefined": "XP_016880263.1:p.Arg173Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_001752538.2:n.1444G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_001752539.1:n.1419G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_001752540.2:n.1444G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_002958025.1:n.1444G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_002958026.1:n.1419G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_002958027.1:n.1419G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_002958028.1:n.1419G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "referenceAllele": "G",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_002958029.1:n.1434G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_002958030.1:n.1097G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_934483.3:n.1444G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "XR_934484.3:n.1444G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825736653",
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001130020.2:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123492.1:p.Arg436Gln",
        "hgvsWellDefined": "NP_001123492.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825736694",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001130021.2:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123493.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001123493.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829589068",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_005177.4:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005168.2:p.Arg429Gln",
        "hgvsWellDefined": "NP_005168.2:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825736653",
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001130020.3:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123492.1:p.Arg436Gln",
        "hgvsWellDefined": "NP_001123492.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825736694",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001130021.3:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123493.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001123493.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343619.9:c.1286G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130021.3:c.1286G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342951.3:p.Arg429Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001123493.1:p.Arg429Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783390",
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378522.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365451.1:p.Arg436Gln",
        "hgvsWellDefined": "NP_001365451.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783433",
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378523.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365452.1:p.Arg436Gln",
        "hgvsWellDefined": "NP_001365452.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783476",
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378530.1:c.1409G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365459.1:p.Arg470Gln",
        "hgvsWellDefined": "NP_001365459.1:p.Arg470Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783513",
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378531.1:c.1430G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365460.1:p.Arg477Gln",
        "hgvsWellDefined": "NP_001365460.1:p.Arg477Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783554",
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378532.1:c.1430G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365461.1:p.Arg477Gln",
        "hgvsWellDefined": "NP_001365461.1:p.Arg477Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721750"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783580",
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378533.1:c.1409G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365462.1:p.Arg470Gln",
        "hgvsWellDefined": "NP_001365462.1:p.Arg470Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783623",
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378534.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365463.1:p.Arg436Gln",
        "hgvsWellDefined": "NP_001365463.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783666",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378535.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365464.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001365464.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783706",
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378536.1:c.1178G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365465.1:p.Arg393Gln",
        "hgvsWellDefined": "NP_001365465.1:p.Arg393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783749",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378537.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365466.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001365466.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783789",
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378538.1:c.1157G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365467.1:p.Arg386Gln",
        "hgvsWellDefined": "NP_001365467.1:p.Arg386Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783832",
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378539.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365468.1:p.Arg436Gln",
        "hgvsWellDefined": "NP_001365468.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783868",
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378540.1:c.1157G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365469.1:p.Arg386Gln",
        "hgvsWellDefined": "NP_001365469.1:p.Arg386Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783909",
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378541.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365470.1:p.Arg436Gln",
        "hgvsWellDefined": "NP_001365470.1:p.Arg436Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783948",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378542.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365471.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001365471.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721760"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828783984",
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378543.1:c.1127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365472.1:p.Arg376Gln",
        "hgvsWellDefined": "NP_001365472.1:p.Arg376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784027",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378544.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365473.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001365473.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784062",
      "coordinates": [
        {
          "allele": "A",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378545.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365474.1:p.Arg359Gln",
        "hgvsWellDefined": "NP_001365474.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784104",
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378546.1:c.1073G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365475.1:p.Arg358Gln",
        "hgvsWellDefined": "NP_001365475.1:p.Arg358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784146",
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378547.1:c.1073G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365476.1:p.Arg358Gln",
        "hgvsWellDefined": "NP_001365476.1:p.Arg358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721765"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784189",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378548.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365477.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001365477.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784221",
      "coordinates": [
        {
          "allele": "A",
          "end": 1255,
          "referenceAllele": "G",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378549.1:c.1106G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365478.1:p.Arg369Gln",
        "hgvsWellDefined": "NP_001365478.1:p.Arg369Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721767"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784261",
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378550.1:c.1178G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365479.1:p.Arg393Gln",
        "hgvsWellDefined": "NP_001365479.1:p.Arg393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784304",
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378551.1:c.1409G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365480.1:p.Arg470Gln",
        "hgvsWellDefined": "NP_001365480.1:p.Arg470Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721769"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784347",
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378552.1:c.1409G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365481.1:p.Arg470Gln",
        "hgvsWellDefined": "NP_001365481.1:p.Arg470Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721770"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784382",
      "coordinates": [
        {
          "allele": "A",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378554.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365483.1:p.Arg359Gln",
        "hgvsWellDefined": "NP_001365483.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784422",
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378556.1:c.1178G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365485.1:p.Arg393Gln",
        "hgvsWellDefined": "NP_001365485.1:p.Arg393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828784461",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_001378557.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365486.1:p.Arg429Gln",
        "hgvsWellDefined": "NP_001365486.1:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829589068",
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NM_005177.5:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005168.2:p.Arg429Gln",
        "hgvsWellDefined": "NP_005168.2:p.Arg429Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727597"
    }
  ],
  "type": "nucleotide"
}