{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7033862",
  "communityStandardTitle": [
    "NM_000282.4(PCCA):c.1988G>A (p.Arg663His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1123072[alleleid]",
        "alleleId": 1123072,
        "preferredName": "NM_000282.4(PCCA):c.1988G>A (p.Arg663His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1129826",
        "RCV": [
          "RCV001463129",
          "RCV004038620"
        ],
        "variationId": 1129826
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-101167769-G-A",
        "id": "13-101167769-G-A",
        "variant": "13:101167769 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101167769G>A?assembly=hg19",
        "id": "chr13:g.101167769G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.100515515G>A?assembly=hg38",
        "id": "chr13:g.100515515G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780042764",
        "rs": 780042764
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-101167769-G-A?dataset=gnomad_r2_1",
        "id": "13-101167769-G-A",
        "variant": "13:101167769 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-100515515-G-A?dataset=gnomad_r3",
        "id": "13-100515515-G-A",
        "variant": "13:100515515 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-100515515-G-A?dataset=gnomad_r4",
        "id": "13-100515515-G-A",
        "variant": "13:100515515 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 100515515,
          "referenceAllele": "G",
          "start": 100515514
        }
      ],
      "hgvs": [
        "NC_000013.11:g.100515515G>A",
        "CM000675.2:g.100515515G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 101167769,
          "referenceAllele": "G",
          "start": 101167768
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101167769G>A",
        "CM000675.1:g.101167769G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 99965770,
          "referenceAllele": "G",
          "start": 99965769
        }
      ],
      "hgvs": [
        "NC_000013.9:g.99965770G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431433,
          "referenceAllele": "G",
          "start": 431432
        }
      ],
      "hgvs": [
        "NG_008768.1:g.431433G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001207"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.6:c.1988G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:p.Arg663His",
        "hgvsWellDefined": "ENSP00000365462.1:p.Arg663His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.1988G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.1988G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:p.Arg663His"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:p.Arg663His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "referenceAllele": "G",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636366.1:c.1186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1503,
          "referenceAllele": "G",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636475.1:c.1503G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1648,
          "referenceAllele": "G",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000637657.1:c.1648G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1742,
          "referenceAllele": "G",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000647303.1:c.*1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495663.1:n.*1472G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2005,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 2005,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376279.7:c.1900-12160G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365456.3:n.1900-12160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2026,
          "referenceAllele": "G",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.5:c.1988G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:p.Arg663His",
        "hgvsWellDefined": "ENSP00000365462.1:p.Arg663His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376286.8:c.1910G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365463.4:p.Arg637His",
        "hgvsWellDefined": "ENSP00000365463.4:p.Arg637His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000428969.1:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399413.1:p.Arg30His",
        "hgvsWellDefined": "ENSP00000399413.1:p.Arg30His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000458283.5:c.257-12160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230715",
      "coordinates": [
        {
          "allele": "A",
          "end": 2094,
          "referenceAllele": "G",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.3:c.1988G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:p.Arg663His",
        "hgvsWellDefined": "NP_000273.2:p.Arg663His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825654254",
      "coordinates": [
        {
          "allele": "A",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.2:c.1910G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:p.Arg637His",
        "hgvsWellDefined": "NP_001121164.1:p.Arg637His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2005,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 2005,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.1:c.1900-12160G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:n.1900-12160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1897,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 1897,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_931615.1:n.1898-12160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127719"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663635",
      "coordinates": [
        {
          "allele": "A",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.1:c.1934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:p.Arg645His",
        "hgvsWellDefined": "NP_001339534.1:p.Arg645His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664264",
      "coordinates": [
        {
          "allele": "A",
          "end": 1950,
          "referenceAllele": "G",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.1:c.1844G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:p.Arg615His",
        "hgvsWellDefined": "NP_001339535.1:p.Arg615His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 1927,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.1:c.1822-12160G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:n.1822-12160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521034"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665471",
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.1:c.1766G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:p.Arg589His",
        "hgvsWellDefined": "NP_001339537.1:p.Arg589His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666170",
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.1:c.1043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:p.Arg348His",
        "hgvsWellDefined": "NP_001339539.1:p.Arg348His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521037"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1961,
          "referenceAllele": "G",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.1:c.989G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:p.Arg330His",
        "hgvsWellDefined": "NP_001339540.1:p.Arg330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666787",
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "G",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.1:c.899G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:p.Arg300His",
        "hgvsWellDefined": "NP_001339541.1:p.Arg300His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2089,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 2089,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.1:n.2090-12160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2075,
          "referenceAllele": "G",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.1:n.2075G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.1:n.1997G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.1:n.2178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1991,
          "referenceAllele": "G",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.1:n.1991G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2002,
          "referenceAllele": "G",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020609.1:c.1889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876098.1:p.Arg630His",
        "hgvsWellDefined": "XP_016876098.1:p.Arg630His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2168,
          "referenceAllele": "G",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020612.1:c.*21G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876101.1:n.*21G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 2079,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020613.1:c.1979-12160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876102.1:n.1979-12160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2168,
          "referenceAllele": "G",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749567.1:n.2168G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749568.1:n.2255G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2166,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 2166,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749569.1:n.2167-12160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749574.1:n.2024G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749576.1:n.1725G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1622,
          "referenceAllele": "G",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749577.1:n.1622G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230715",
      "coordinates": [
        {
          "allele": "A",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.4:c.1988G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:p.Arg663His",
        "hgvsWellDefined": "NP_000273.2:p.Arg663His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.1988G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.1988G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:p.Arg663His"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:p.Arg663His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663635",
      "coordinates": [
        {
          "allele": "A",
          "end": 1962,
          "referenceAllele": "G",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.2:c.1934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:p.Arg645His",
        "hgvsWellDefined": "NP_001339534.1:p.Arg645His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664264",
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.2:c.1844G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:p.Arg615His",
        "hgvsWellDefined": "NP_001339535.1:p.Arg615His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1849,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 1849,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.2:c.1822-12160G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:n.1822-12160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665471",
      "coordinates": [
        {
          "allele": "A",
          "end": 1794,
          "referenceAllele": "G",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.2:c.1766G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:p.Arg589His",
        "hgvsWellDefined": "NP_001339537.1:p.Arg589His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666170",
      "coordinates": [
        {
          "allele": "A",
          "end": 1937,
          "referenceAllele": "G",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.2:c.1043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:p.Arg348His",
        "hgvsWellDefined": "NP_001339539.1:p.Arg348His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1883,
          "referenceAllele": "G",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.2:c.989G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:p.Arg330His",
        "hgvsWellDefined": "NP_001339540.1:p.Arg330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666787",
      "coordinates": [
        {
          "allele": "A",
          "end": 1793,
          "referenceAllele": "G",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.2:c.899G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:p.Arg300His",
        "hgvsWellDefined": "NP_001339541.1:p.Arg300His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2011,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 2011,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.2:n.2012-12160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.2:n.1997G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.2:n.1919G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2100,
          "referenceAllele": "G",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.2:n.2100G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1913,
          "referenceAllele": "G",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.2:n.1913G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825654254",
      "coordinates": [
        {
          "allele": "A",
          "end": 1938,
          "referenceAllele": "G",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.3:c.1910G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:p.Arg637His",
        "hgvsWellDefined": "NP_001121164.1:p.Arg637His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "endIntronDirection": "-",
          "endIntronOffset": 12159,
          "referenceAllele": "G",
          "start": 1927,
          "startIntronDirection": "-",
          "startIntronOffset": 12160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.2:c.1900-12160G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:n.1900-12160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713545"
    }
  ],
  "type": "nucleotide"
}