{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA312816",
  "communityStandardTitle": [
    "NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200256[alleleid]",
        "alleleId": 200256,
        "preferredName": "NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203878",
        "RCV": [
          "RCV000664489"
        ],
        "variationId": 203878
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101101551G>C?assembly=hg19",
        "id": "chr13:g.101101551G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.100449297G>C?assembly=hg38",
        "id": "chr13:g.100449297G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052018",
        "rs": 796052018
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-101101551-G-C?dataset=gnomad_r2_1",
        "id": "13-101101551-G-C",
        "variant": "13:101101551 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-100449297-G-C?dataset=gnomad_r4",
        "id": "13-100449297-G-C",
        "variant": "13:100449297 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 100449297,
          "referenceAllele": "G",
          "start": 100449296
        }
      ],
      "hgvs": [
        "NC_000013.11:g.100449297G>C",
        "CM000675.2:g.100449297G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 101101551,
          "referenceAllele": "G",
          "start": 101101550
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101101551G>C",
        "CM000675.1:g.101101551G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 99899552,
          "referenceAllele": "G",
          "start": 99899551
        }
      ],
      "hgvs": [
        "NC_000013.9:g.99899552G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365215,
          "referenceAllele": "G",
          "start": 365214
        }
      ],
      "hgvs": [
        "NG_008768.1:g.365215G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001207"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.6:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:p.Gly631Arg",
        "hgvsWellDefined": "ENSP00000365462.1:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.1891G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.1891G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:p.Gly631Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:p.Gly631Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636366.1:c.1089G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1406,
          "referenceAllele": "G",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636475.1:c.1406G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000637657.1:c.1551G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000647303.1:c.*1375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495663.1:n.*1375G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376279.7:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365456.3:p.Gly631Arg",
        "hgvsWellDefined": "ENSP00000365456.3:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1929,
          "referenceAllele": "G",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.5:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:p.Gly631Arg",
        "hgvsWellDefined": "ENSP00000365462.1:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376286.8:c.1813G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365463.4:p.Gly605Arg",
        "hgvsWellDefined": "ENSP00000365463.4:p.Gly605Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000413170.1:c.221G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000458283.5:c.248G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107374",
      "coordinates": [
        {
          "allele": "C",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.3:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:p.Gly631Arg",
        "hgvsWellDefined": "NP_000273.2:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825654220",
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.2:c.1813G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:p.Gly605Arg",
        "hgvsWellDefined": "NP_001121164.1:p.Gly605Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826131907",
      "coordinates": [
        {
          "allele": "C",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.1:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:p.Gly631Arg",
        "hgvsWellDefined": "NP_001171475.1:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_005254059.2:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254116.1:p.Gly631Arg",
        "hgvsWellDefined": "XP_005254116.1:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_011521093.1:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519395.1:p.Gly631Arg",
        "hgvsWellDefined": "XP_011519395.1:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_931615.1:n.1889G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1951,
          "endIntronDirection": "+",
          "endIntronOffset": 23566,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "+",
          "startIntronOffset": 23565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.1:c.1845+23566G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:n.1845+23566G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664229",
      "coordinates": [
        {
          "allele": "C",
          "end": 1853,
          "referenceAllele": "G",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.1:c.1747G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:p.Gly583Arg",
        "hgvsWellDefined": "NP_001339535.1:p.Gly583Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664891",
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.1:c.1813G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:p.Gly605Arg",
        "hgvsWellDefined": "NP_001339536.1:p.Gly605Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521034"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665437",
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.1:c.1669G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:p.Gly557Arg",
        "hgvsWellDefined": "NP_001339537.1:p.Gly557Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035574",
      "coordinates": [
        {
          "allele": "C",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.1:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:p.Gly631Arg",
        "hgvsWellDefined": "NP_001339538.1:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666135",
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.1:c.946G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:p.Gly316Arg",
        "hgvsWellDefined": "NP_001339539.1:p.Gly316Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "+",
          "endIntronOffset": 23566,
          "referenceAllele": "G",
          "start": 1872,
          "startIntronDirection": "+",
          "startIntronOffset": 23565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.1:c.900+23566G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.900+23566G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666753",
      "coordinates": [
        {
          "allele": "C",
          "end": 1774,
          "referenceAllele": "G",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.1:c.802G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:p.Gly268Arg",
        "hgvsWellDefined": "NP_001339541.1:p.Gly268Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "G",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.1:n.2081G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.1:n.1978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.1:n.1900G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "G",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.1:n.2081G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.1:n.1894G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020605.1:c.1970G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876094.1:p.Trp657Ser",
        "hgvsWellDefined": "XP_016876094.1:p.Trp657Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1922,
          "referenceAllele": "G",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020606.1:c.1892G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876095.1:p.Trp631Ser",
        "hgvsWellDefined": "XP_016876095.1:p.Trp631Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020607.1:c.1871G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876096.1:p.Trp624Ser",
        "hgvsWellDefined": "XP_016876096.1:p.Trp624Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020609.1:c.1792G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876098.1:p.Gly598Arg",
        "hgvsWellDefined": "XP_016876098.1:p.Gly598Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020611.1:c.1970G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876100.1:p.Trp657Ser",
        "hgvsWellDefined": "XP_016876100.1:p.Trp657Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020612.1:c.1970G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876101.1:p.Trp657Ser",
        "hgvsWellDefined": "XP_016876101.1:p.Trp657Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020613.1:c.1970G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876102.1:p.Trp657Ser",
        "hgvsWellDefined": "XP_016876102.1:p.Trp657Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749567.1:n.2071G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2158,
          "referenceAllele": "G",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749568.1:n.2158G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2158,
          "referenceAllele": "G",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749569.1:n.2158G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749574.1:n.1927G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749576.1:n.1628G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1525,
          "referenceAllele": "G",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749577.1:n.1525G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107374",
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.4:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:p.Gly631Arg",
        "hgvsWellDefined": "NP_000273.2:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.1891G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.1891G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:p.Gly631Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:p.Gly631Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 23566,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 23565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.2:c.1845+23566G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:n.1845+23566G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664229",
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.2:c.1747G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:p.Gly583Arg",
        "hgvsWellDefined": "NP_001339535.1:p.Gly583Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664891",
      "coordinates": [
        {
          "allele": "C",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.2:c.1813G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:p.Gly605Arg",
        "hgvsWellDefined": "NP_001339536.1:p.Gly605Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665437",
      "coordinates": [
        {
          "allele": "C",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.2:c.1669G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:p.Gly557Arg",
        "hgvsWellDefined": "NP_001339537.1:p.Gly557Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035574",
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.2:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:p.Gly631Arg",
        "hgvsWellDefined": "NP_001339538.1:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666135",
      "coordinates": [
        {
          "allele": "C",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.2:c.946G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:p.Gly316Arg",
        "hgvsWellDefined": "NP_001339539.1:p.Gly316Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "endIntronDirection": "+",
          "endIntronOffset": 23566,
          "referenceAllele": "G",
          "start": 1794,
          "startIntronDirection": "+",
          "startIntronOffset": 23565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.2:c.900+23566G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.900+23566G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666753",
      "coordinates": [
        {
          "allele": "C",
          "end": 1696,
          "referenceAllele": "G",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.2:c.802G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:p.Gly268Arg",
        "hgvsWellDefined": "NP_001339541.1:p.Gly268Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2003,
          "referenceAllele": "G",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.2:n.2003G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.2:n.1900G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.2:n.1822G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2003,
          "referenceAllele": "G",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.2:n.2003G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.2:n.1816G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825654220",
      "coordinates": [
        {
          "allele": "C",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.3:c.1813G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:p.Gly605Arg",
        "hgvsWellDefined": "NP_001121164.1:p.Gly605Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826131907",
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.2:c.1891G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:p.Gly631Arg",
        "hgvsWellDefined": "NP_001171475.1:p.Gly631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713545"
    }
  ],
  "type": "nucleotide"
}