{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388698364",
  "communityStandardTitle": [
    "NM_000282.4(PCCA):c.1746+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1481215[alleleid]",
        "alleleId": 1481215,
        "preferredName": "NM_000282.4(PCCA):c.1746+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459857",
        "RCV": [
          "RCV001963180"
        ],
        "variationId": 1459857
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101020829G>A?assembly=hg19",
        "id": "chr13:g.101020829G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.100368575G>A?assembly=hg38",
        "id": "chr13:g.100368575G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2075369142",
        "rs": 2075369142
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-100368575-G-A?dataset=gnomad_r3",
        "id": "13-100368575-G-A",
        "variant": "13:100368575 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-100368575-G-A?dataset=gnomad_r4",
        "id": "13-100368575-G-A",
        "variant": "13:100368575 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 100368575,
          "referenceAllele": "G",
          "start": 100368574
        }
      ],
      "hgvs": [
        "NC_000013.11:g.100368575G>A",
        "CM000675.2:g.100368575G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 101020829,
          "referenceAllele": "G",
          "start": 101020828
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101020829G>A",
        "CM000675.1:g.101020829G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 99818830,
          "referenceAllele": "G",
          "start": 99818829
        }
      ],
      "hgvs": [
        "NC_000013.9:g.99818830G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284493,
          "referenceAllele": "G",
          "start": 284492
        }
      ],
      "hgvs": [
        "NG_008768.1:g.284493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001207"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.6:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.1746+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.1746+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:n.1746+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:n.1746+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 57057,
          "referenceAllele": "G",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 57058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636366.1:c.945-57058G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1261,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636475.1:c.1261+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1406,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000637657.1:c.1406+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1500,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000647303.1:c.*1230+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495663.1:n.*1230+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1852,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376279.7:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365456.3:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1784,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.5:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376286.8:c.1668+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365463.4:n.1668+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 76,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000413170.1:c.76+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000424527.5:c.348+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396050.1:n.348+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 103,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 103,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000458283.5:c.103+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1852,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.3:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.2:c.1668+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:n.1668+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1852,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_005254059.2:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254116.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_011521093.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519395.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "endIntronDirection": "+",
          "endIntronOffset": 28316,
          "referenceAllele": "G",
          "start": 1744,
          "startIntronDirection": "+",
          "startIntronOffset": 28315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_931615.1:n.1744+28316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1852,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1708,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1708,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.1:c.1602+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:n.1602+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.1:c.1668+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:n.1668+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1630,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1630,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.1:c.1524+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:n.1524+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1852,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1773,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1773,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.1:c.801+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:n.801+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1773,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1773,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.1:c.801+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.801+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1629,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.1:c.657+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:n.657+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1936,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.1:n.1936+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "endIntronDirection": "+",
          "endIntronOffset": 28316,
          "referenceAllele": "G",
          "start": 1833,
          "startIntronDirection": "+",
          "startIntronOffset": 28315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.1:n.1833+28316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "endIntronDirection": "+",
          "endIntronOffset": 28316,
          "referenceAllele": "G",
          "start": 1755,
          "startIntronDirection": "+",
          "startIntronOffset": 28315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.1:n.1755+28316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1936,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.1:n.1936+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1749,
          "endIntronDirection": "+",
          "endIntronOffset": 28316,
          "referenceAllele": "G",
          "start": 1749,
          "startIntronDirection": "+",
          "startIntronOffset": 28315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.1:n.1749+28316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020605.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876094.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1698,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1698,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020606.1:c.1668+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876095.1:n.1668+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1663,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1663,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020607.1:c.1647+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876096.1:n.1647+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1760,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020609.1:c.1647+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876098.1:n.1647+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020611.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876100.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020612.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876101.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020613.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876102.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020615.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876104.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749567.1:n.1847+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749568.1:n.1847+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749569.1:n.1847+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1782,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1782,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749574.1:n.1782+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1483,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1483,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749576.1:n.1483+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "endIntronDirection": "+",
          "endIntronOffset": 28316,
          "referenceAllele": "G",
          "start": 1380,
          "startIntronDirection": "+",
          "startIntronOffset": 28315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749577.1:n.1380+28316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.4:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.1746+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.1746+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:n.1746+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:n.1746+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.2:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1630,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1630,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.2:c.1602+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:n.1602+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1696,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.2:c.1668+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:n.1668+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1552,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.2:c.1524+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:n.1524+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.2:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1695,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1695,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.2:c.801+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:n.801+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1695,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1695,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.2:c.801+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.801+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.2:c.657+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:n.657+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1858,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.2:n.1858+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "endIntronDirection": "+",
          "endIntronOffset": 28316,
          "referenceAllele": "G",
          "start": 1755,
          "startIntronDirection": "+",
          "startIntronOffset": 28315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.2:n.1755+28316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1677,
          "endIntronDirection": "+",
          "endIntronOffset": 28316,
          "referenceAllele": "G",
          "start": 1677,
          "startIntronDirection": "+",
          "startIntronOffset": 28315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.2:n.1677+28316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1858,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.2:n.1858+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "endIntronDirection": "+",
          "endIntronOffset": 28316,
          "referenceAllele": "G",
          "start": 1671,
          "startIntronDirection": "+",
          "startIntronOffset": 28315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.2:n.1671+28316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1696,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.3:c.1668+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:n.1668+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.2:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713545"
    }
  ],
  "type": "nucleotide"
}