{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388694762",
  "communityStandardTitle": [
    "NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1860121[alleleid]",
        "alleleId": 1860121,
        "preferredName": "NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1803092",
        "RCV": [
          "RCV002466762"
        ],
        "variationId": 1803092
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.100925494C>A?assembly=hg19",
        "id": "chr13:g.100925494C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.100273240C>A?assembly=hg38",
        "id": "chr13:g.100273240C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1245721727",
        "rs": 1245721727
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-100273240-C-A?dataset=gnomad_r4",
        "id": "13-100273240-C-A",
        "variant": "13:100273240 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 100273240,
          "referenceAllele": "C",
          "start": 100273239
        }
      ],
      "hgvs": [
        "NC_000013.11:g.100273240C>A",
        "CM000675.2:g.100273240C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 100925494,
          "referenceAllele": "C",
          "start": 100925493
        }
      ],
      "hgvs": [
        "NC_000013.10:g.100925494C>A",
        "CM000675.1:g.100925494C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 99723495,
          "referenceAllele": "C",
          "start": 99723494
        }
      ],
      "hgvs": [
        "NC_000013.9:g.99723495C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189158,
          "referenceAllele": "C",
          "start": 189157
        }
      ],
      "hgvs": [
        "NG_008768.1:g.189158C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001207"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.6:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:p.Ala320Asp",
        "hgvsWellDefined": "ENSP00000365462.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.959C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.959C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:p.Ala320Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:p.Ala320Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636366.1:c.838C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636420.1:c.838C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000636475.1:c.838C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000637657.1:c.838C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "C",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000647303.1:c.*807C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495663.1:n.*807C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376279.7:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365456.3:p.Ala320Asp",
        "hgvsWellDefined": "ENSP00000365456.3:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376285.5:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365462.1:p.Ala320Asp",
        "hgvsWellDefined": "ENSP00000365462.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "ENST00000376286.8:c.881C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365463.4:p.Ala294Asp",
        "hgvsWellDefined": "ENSP00000365463.4:p.Ala294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139101",
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.3:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:p.Ala320Asp",
        "hgvsWellDefined": "NP_000273.2:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825653939",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.2:c.881C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:p.Ala294Asp",
        "hgvsWellDefined": "NP_001121164.1:p.Ala294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826131630",
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:p.Ala320Asp",
        "hgvsWellDefined": "NP_001171475.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_005254059.2:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254116.1:p.Ala320Asp",
        "hgvsWellDefined": "XP_005254116.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_011521093.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519395.1:p.Ala320Asp",
        "hgvsWellDefined": "XP_011519395.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_931615.1:n.1060C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_931616.1:n.1060C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663339",
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:p.Ala320Asp",
        "hgvsWellDefined": "NP_001339534.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664001",
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:p.Ala320Asp",
        "hgvsWellDefined": "NP_001339535.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664610",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.1:c.881C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:p.Ala294Asp",
        "hgvsWellDefined": "NP_001339536.1:p.Ala294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521034"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665210",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.1:c.881C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:p.Ala294Asp",
        "hgvsWellDefined": "NP_001339537.1:p.Ala294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665663",
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:p.Ala320Asp",
        "hgvsWellDefined": "NP_001339538.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665855",
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.1:c.14C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:p.Ala5Asp",
        "hgvsWellDefined": "NP_001339539.1:p.Ala5Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521037"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666239",
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.1:c.14C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:p.Ala5Asp",
        "hgvsWellDefined": "NP_001339540.1:p.Ala5Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580209621",
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.1:c.14C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:p.Ala5Asp",
        "hgvsWellDefined": "NP_001339541.1:p.Ala5Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.1:n.1065C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.1:n.1065C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.1:n.987C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.1:n.1065C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.1:n.1065C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020605.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876094.1:p.Ala320Asp",
        "hgvsWellDefined": "XP_016876094.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020606.1:c.881C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876095.1:p.Ala294Asp",
        "hgvsWellDefined": "XP_016876095.1:p.Ala294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020607.1:c.860C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876096.1:p.Ala287Asp",
        "hgvsWellDefined": "XP_016876096.1:p.Ala287Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020609.1:c.860C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876098.1:p.Ala287Asp",
        "hgvsWellDefined": "XP_016876098.1:p.Ala287Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020611.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876100.1:p.Ala320Asp",
        "hgvsWellDefined": "XP_016876100.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020612.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876101.1:p.Ala320Asp",
        "hgvsWellDefined": "XP_016876101.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020613.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876102.1:p.Ala320Asp",
        "hgvsWellDefined": "XP_016876102.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020615.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876104.1:p.Ala320Asp",
        "hgvsWellDefined": "XP_016876104.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020616.1:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876105.1:p.Ala320Asp",
        "hgvsWellDefined": "XP_016876105.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749567.1:n.1060C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749568.1:n.1060C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749569.1:n.1060C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749574.1:n.911C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749576.1:n.1060C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749577.1:n.1060C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139101",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.4:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:p.Ala320Asp",
        "hgvsWellDefined": "NP_000273.2:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.959C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.959C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:p.Ala320Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:p.Ala320Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663339",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.2:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:p.Ala320Asp",
        "hgvsWellDefined": "NP_001339534.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664001",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.2:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:p.Ala320Asp",
        "hgvsWellDefined": "NP_001339535.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664610",
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.2:c.881C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:p.Ala294Asp",
        "hgvsWellDefined": "NP_001339536.1:p.Ala294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665210",
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.2:c.881C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:p.Ala294Asp",
        "hgvsWellDefined": "NP_001339537.1:p.Ala294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665663",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.2:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:p.Ala320Asp",
        "hgvsWellDefined": "NP_001339538.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665855",
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.2:c.14C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:p.Ala5Asp",
        "hgvsWellDefined": "NP_001339539.1:p.Ala5Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827666239",
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.2:c.14C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:p.Ala5Asp",
        "hgvsWellDefined": "NP_001339540.1:p.Ala5Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580209621",
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.2:c.14C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:p.Ala5Asp",
        "hgvsWellDefined": "NP_001339541.1:p.Ala5Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.2:n.987C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.2:n.987C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.2:n.909C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.2:n.987C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.2:n.987C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825653939",
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.3:c.881C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:p.Ala294Asp",
        "hgvsWellDefined": "NP_001121164.1:p.Ala294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826131630",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.2:c.959C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:p.Ala320Asp",
        "hgvsWellDefined": "NP_001171475.1:p.Ala320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713545"
    }
  ],
  "type": "nucleotide"
}