{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129326",
  "communityStandardTitle": [
    "NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39506[alleleid]",
        "alleleId": 39506,
        "preferredName": "NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30549",
        "RCV": [
          "RCV000023506"
        ],
        "variationId": 30549
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.59763135C>T?assembly=hg19",
        "id": "chr18:g.59763135C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.62095902C>T?assembly=hg38",
        "id": "chr18:g.62095902C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514475",
        "rs": 397514475
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-59763135-C-T?dataset=gnomad_r2_1",
        "id": "18-59763135-C-T",
        "variant": "18:59763135 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-62095902-C-T?dataset=gnomad_r3",
        "id": "18-62095902-C-T",
        "variant": "18:62095902 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-62095902-C-T?dataset=gnomad_r4",
        "id": "18-62095902-C-T",
        "variant": "18:62095902 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 62095902,
          "referenceAllele": "C",
          "start": 62095901
        }
      ],
      "hgvs": [
        "NC_000018.10:g.62095902C>T",
        "CM000680.2:g.62095902C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 59763135,
          "referenceAllele": "C",
          "start": 59763134
        }
      ],
      "hgvs": [
        "NC_000018.9:g.59763135C>T",
        "CM000680.1:g.59763135C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 57914115,
          "referenceAllele": "C",
          "start": 57914114
        }
      ],
      "hgvs": [
        "NC_000018.8:g.57914115C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96155,
          "referenceAllele": "G",
          "start": 96154
        }
      ],
      "hgvs": [
        "NG_033144.1:g.96155G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2430,
          "referenceAllele": "G",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000357637.10:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350263.4:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000350263.4:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638167.1:c.1724G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491549.1:p.Arg575Gln",
        "hgvsWellDefined": "ENSP00000491549.1:p.Arg575Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2330,
          "referenceAllele": "G",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638183.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491013.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000491013.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2402,
          "referenceAllele": "G",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638369.1:c.1943G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491811.1:p.Arg648Gln",
        "hgvsWellDefined": "ENSP00000491811.1:p.Arg648Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2330,
          "referenceAllele": "G",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638424.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491963.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000491963.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2180,
          "referenceAllele": "G",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638435.1:c.1895G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491850.1:p.Arg632Gln",
        "hgvsWellDefined": "ENSP00000491850.1:p.Arg632Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638858.1:n.2105G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2330,
          "referenceAllele": "G",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638904.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491318.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000491318.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638936.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492592.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000492592.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2311,
          "referenceAllele": "G",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638977.1:c.2066G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491010.1:p.Arg689Gln",
        "hgvsWellDefined": "ENSP00000491010.1:p.Arg689Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639174.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492783.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000492783.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639342.1:c.1874G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491022.1:p.Arg625Gln",
        "hgvsWellDefined": "ENSP00000491022.1:p.Arg625Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "referenceAllele": "G",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639372.1:c.186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1596,
          "referenceAllele": "G",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639600.1:c.1596G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "referenceAllele": "G",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639681.1:c.*1486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491929.1:n.*1486G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2347,
          "referenceAllele": "G",
          "start": 2346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639758.1:c.2066G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491475.1:p.Arg689Gln",
        "hgvsWellDefined": "ENSP00000491475.1:p.Arg689Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2430,
          "referenceAllele": "G",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639902.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490965.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000490965.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2475,
          "referenceAllele": "G",
          "start": 2474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639912.1:c.2066G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490970.1:p.Arg689Gln",
        "hgvsWellDefined": "ENSP00000490970.1:p.Arg689Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2309,
          "referenceAllele": "G",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640050.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492051.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000492051.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640145.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491525.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000491525.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640170.1:c.*1486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491270.1:n.*1486G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2574,
          "referenceAllele": "G",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640252.2:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492233.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000492233.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640252.2:c.2126G>A"
          },
          "RefSeq": {
            "hgvs": "NM_176787.5:c.2126G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492233.1:p.Arg709Gln"
          },
          "RefSeq": {
            "hgvs": "NP_789744.1:p.Arg709Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2403,
          "referenceAllele": "G",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640268.1:c.*271G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491111.1:n.*271G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2334,
          "referenceAllele": "G",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640540.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491620.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000491620.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640593.1:c.*1084G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492017.1:n.*1084G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640682.1:c.941G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491415.1:p.Arg314Gln",
        "hgvsWellDefined": "ENSP00000491415.1:p.Arg314Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2371,
          "referenceAllele": "G",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640876.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491628.1:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000491628.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000357637.9:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350263.4:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000350263.4:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2479,
          "referenceAllele": "G",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000400334.7:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383188.2:p.Arg709Gln",
        "hgvsWellDefined": "ENSP00000383188.2:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000587942.1:n.988G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390435"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092196",
      "coordinates": [
        {
          "allele": "A",
          "end": 2497,
          "referenceAllele": "G",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NM_012327.5:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036459.1:p.Arg709Gln",
        "hgvsWellDefined": "NP_036459.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129327",
      "coordinates": [
        {
          "allele": "A",
          "end": 2574,
          "referenceAllele": "G",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NM_176787.4:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_789744.1:p.Arg709Gln",
        "hgvsWellDefined": "NP_789744.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525889.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524191.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524191.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2739,
          "referenceAllele": "G",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525890.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524192.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524192.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2457,
          "referenceAllele": "G",
          "start": 2456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525891.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524193.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524193.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2479,
          "referenceAllele": "G",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525892.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524194.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524194.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2430,
          "referenceAllele": "G",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525893.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524195.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524195.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525894.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524196.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524196.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2339,
          "referenceAllele": "G",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525895.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524197.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524197.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525896.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524198.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524198.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2482,
          "referenceAllele": "G",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525897.1:c.2066G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524199.1:p.Arg689Gln",
        "hgvsWellDefined": "XP_011524199.1:p.Arg689Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525898.1:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524200.1:p.Arg709Gln",
        "hgvsWellDefined": "XP_011524200.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2140,
          "referenceAllele": "G",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_017025685.1:c.1724G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881174.1:p.Arg575Gln",
        "hgvsWellDefined": "XP_016881174.1:p.Arg575Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_017025686.1:c.1724G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881175.1:p.Arg575Gln",
        "hgvsWellDefined": "XP_016881175.1:p.Arg575Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129327",
      "coordinates": [
        {
          "allele": "A",
          "end": 2574,
          "referenceAllele": "G",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NM_176787.5:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_789744.1:p.Arg709Gln",
        "hgvsWellDefined": "NP_789744.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640252.2:c.2126G>A"
          },
          "RefSeq": {
            "hgvs": "NM_176787.5:c.2126G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492233.1:p.Arg709Gln"
          },
          "RefSeq": {
            "hgvs": "NP_789744.1:p.Arg709Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA092196",
      "coordinates": [
        {
          "allele": "A",
          "end": 2497,
          "referenceAllele": "G",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NM_012327.6:c.2126G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036459.1:p.Arg709Gln",
        "hgvsWellDefined": "NP_036459.1:p.Arg709Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697046"
    }
  ],
  "type": "nucleotide"
}