{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388696931",
  "communityStandardTitle": [
    "NM_000282.4(PCCA):c.1845+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=818404[alleleid]",
        "alleleId": 818404,
        "preferredName": "NM_000282.4(PCCA):c.1845+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/830055",
        "RCV": [
          "RCV001030037"
        ],
        "variationId": 830055
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101077986G>A?assembly=hg19",
        "id": "chr13:g.101077986G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.100425732G>A?assembly=hg38",
        "id": "chr13:g.100425732G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1595860868",
        "rs": 1595860868
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 100425732,
          "referenceAllele": "G",
          "start": 100425731
        }
      ],
      "hgvs": [
        "NC_000013.11:g.100425732G>A",
        "CM000675.2:g.100425732G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 101077986,
          "referenceAllele": "G",
          "start": 101077985
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101077986G>A",
        "CM000675.1:g.101077986G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 99875987,
          "referenceAllele": "G",
          "start": 99875986
        }
      ],
      "hgvs": [
        "NC_000013.9:g.99875987G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 341650,
          "referenceAllele": "G",
          "start": 341649
        }
      ],
      "hgvs": [
        "NG_008768.1:g.341650G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001207"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.6:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.1845+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.1845+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:n.1845+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:n.1845+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1043,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636366.1:c.1043+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1360,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636475.1:c.1360+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1505,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1505,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000637657.1:c.1505+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1599,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000647303.1:c.*1329+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495663.1:n.*1329+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376279.7:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365456.3:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1883,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1883,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.5:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376286.8:c.1767+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365463.4:n.1767+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000413170.1:c.175+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000458283.5:c.202+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.3:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.2:c.1767+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:n.1767+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.1:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_005254059.2:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254116.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_011521093.1:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519395.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1843,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1843,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_931615.1:n.1843+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.1:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1807,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.1:c.1701+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:n.1701+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.1:c.1767+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:n.1767+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1729,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.1:c.1623+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:n.1623+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.1:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1872,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.1:c.900+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:n.900+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1872,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.1:c.900+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.900+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1728,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.1:c.756+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:n.756+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2035,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2035,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.1:n.2035+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1932,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1932,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.1:n.1932+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1854,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.1:n.1854+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2035,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2035,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.1:n.2035+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1848,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1848,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.1:n.1848+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020605.1:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876094.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1797,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1797,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020606.1:c.1767+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876095.1:n.1767+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1762,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1762,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020607.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876096.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1859,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020609.1:c.1746+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876098.1:n.1746+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020611.1:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876100.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020612.1:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876101.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020613.1:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876102.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749567.1:n.1946+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2112,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749568.1:n.2112+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2112,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749569.1:n.2112+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1881,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749574.1:n.1881+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1582,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749576.1:n.1582+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749577.1:n.1479+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.4:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.1845+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.1845+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:n.1845+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:n.1845+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.2:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1729,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.2:c.1701+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:n.1701+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1795,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1795,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.2:c.1767+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:n.1767+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1651,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1651,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.2:c.1623+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:n.1623+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.2:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1794,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1794,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.2:c.900+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:n.900+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1794,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1794,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.2:c.900+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.900+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1650,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1650,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.2:c.756+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:n.756+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1957,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1957,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.2:n.1957+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1854,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.2:n.1854+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1776,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1776,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.2:n.1776+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1957,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1957,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.2:n.1957+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1770,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.2:n.1770+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1795,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1795,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.3:c.1767+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:n.1767+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.2:c.1845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:n.1845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713545"
    }
  ],
  "type": "nucleotide"
}