{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411523338",
  "communityStandardTitle": [
    "NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868602[alleleid]",
        "alleleId": 1868602,
        "preferredName": "NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138447",
        "RCV": [
          "RCV003041414",
          "RCV003050582",
          "RCV003324065",
          "RCV003223766"
        ],
        "variationId": 2138447
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.38508536C>T?assembly=hg19",
        "id": "chr22:g.38508536C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.38112529C>T?assembly=hg38",
        "id": "chr22:g.38112529C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1296348337",
        "rs": 1296348337
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-38508536-C-T?dataset=gnomad_r2_1",
        "id": "22-38508536-C-T",
        "variant": "22:38508536 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-38112529-C-T?dataset=gnomad_r3",
        "id": "22-38112529-C-T",
        "variant": "22:38112529 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-38112529-C-T?dataset=gnomad_r4",
        "id": "22-38112529-C-T",
        "variant": "22:38112529 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 38112529,
          "referenceAllele": "C",
          "start": 38112528
        }
      ],
      "hgvs": [
        "NC_000022.11:g.38112529C>T",
        "CM000684.2:g.38112529C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 38508536,
          "referenceAllele": "C",
          "start": 38508535
        }
      ],
      "hgvs": [
        "NC_000022.10:g.38508536C>T",
        "CM000684.1:g.38508536C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36838482,
          "referenceAllele": "C",
          "start": 36838481
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36838482C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98162,
          "referenceAllele": "G",
          "start": 98161
        }
      ],
      "hgvs": [
        "NG_007094.2:g.98162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3141,
          "referenceAllele": "G",
          "start": 3140
        }
      ],
      "hgvs": [
        "NG_033059.2:g.3141G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107250,
          "referenceAllele": "G",
          "start": 107249
        }
      ],
      "hgvs": [
        "NG_007094.3:g.107250G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733306"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "referenceAllele": "G",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000332509.8:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333142.3:p.Glu751Lys",
        "hgvsWellDefined": "ENSP00000333142.3:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747235",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332509.8:c.2251G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003560.4:c.2251G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333142.3:p.Glu751Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003551.2:p.Glu751Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "referenceAllele": "G",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000436218.6:c.*1449G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401242.1:n.*1449G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000655142.1:c.*1109G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499715.1:n.*1109G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000660610.1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499555.1:p.Glu751Lys",
        "hgvsWellDefined": "ENSP00000499555.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "referenceAllele": "G",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000663895.1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499712.1:p.Glu751Lys",
        "hgvsWellDefined": "ENSP00000499712.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000664587.1:c.2113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499394.1:p.Glu705Lys",
        "hgvsWellDefined": "ENSP00000499394.1:p.Glu705Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2303,
          "referenceAllele": "G",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000665987.1:c.*1990G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499423.1:n.*1990G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2313,
          "referenceAllele": "G",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000667521.1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499665.1:p.Glu751Lys",
        "hgvsWellDefined": "ENSP00000499665.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2492,
          "referenceAllele": "G",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000668499.1:c.*2110G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499626.1:n.*2110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2382,
          "referenceAllele": "G",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000668949.1:c.2293G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499711.1:p.Glu765Lys",
        "hgvsWellDefined": "ENSP00000499711.1:p.Glu765Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "G",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000671093.1:n.2183G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000673413.1:c.*1920G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500600.1:n.*1920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2435,
          "referenceAllele": "G",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000332509.7:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333142.3:p.Glu751Lys",
        "hgvsWellDefined": "ENSP00000333142.3:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2225,
          "referenceAllele": "G",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000335539.7:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335149.3:p.Glu697Lys",
        "hgvsWellDefined": "ENSP00000335149.3:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2180,
          "referenceAllele": "G",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000402064.5:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386100.1:p.Glu697Lys",
        "hgvsWellDefined": "ENSP00000386100.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 327,
          "referenceAllele": "G",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000463287.1:n.327G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825266559",
      "coordinates": [
        {
          "allele": "A",
          "end": 2225,
          "referenceAllele": "G",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001004426.1:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004426.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001004426.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826244783",
      "coordinates": [
        {
          "allele": "A",
          "end": 2180,
          "referenceAllele": "G",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001199562.1:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186491.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001186491.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580292475",
      "coordinates": [
        {
          "allele": "A",
          "end": 2387,
          "referenceAllele": "G",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_003560.2:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003551.2:p.Glu751Lys",
        "hgvsWellDefined": "NP_003551.2:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "referenceAllele": "G",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261764.1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261821.1:p.Glu751Lys",
        "hgvsWellDefined": "XP_005261821.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "referenceAllele": "G",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261765.1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261822.1:p.Glu751Lys",
        "hgvsWellDefined": "XP_005261822.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2454,
          "referenceAllele": "G",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261766.1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261823.1:p.Glu751Lys",
        "hgvsWellDefined": "XP_005261823.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2373,
          "referenceAllele": "G",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_006724332.2:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724395.1:p.Glu751Lys",
        "hgvsWellDefined": "XP_006724395.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2238,
          "referenceAllele": "G",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_011530422.1:c.2146G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528724.1:p.Glu716Lys",
        "hgvsWellDefined": "XP_011528724.1:p.Glu716Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2474,
          "referenceAllele": "G",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_011530423.1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528725.1:p.Glu573Lys",
        "hgvsWellDefined": "XP_011528725.1:p.Glu573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2598,
          "referenceAllele": "G",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_011530424.1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528726.1:p.Glu573Lys",
        "hgvsWellDefined": "XP_011528726.1:p.Glu573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_011530425.1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528727.1:p.Glu573Lys",
        "hgvsWellDefined": "XP_011528727.1:p.Glu573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825266559",
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001004426.2:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004426.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001004426.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826244783",
      "coordinates": [
        {
          "allele": "A",
          "end": 2260,
          "referenceAllele": "G",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001199562.2:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186491.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001186491.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827516051",
      "coordinates": [
        {
          "allele": "A",
          "end": 2459,
          "referenceAllele": "G",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349864.1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336793.1:p.Glu751Lys",
        "hgvsWellDefined": "NP_001336793.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827516668",
      "coordinates": [
        {
          "allele": "A",
          "end": 2297,
          "referenceAllele": "G",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349865.1:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336794.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001336794.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827517285",
      "coordinates": [
        {
          "allele": "A",
          "end": 2256,
          "referenceAllele": "G",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349866.1:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336795.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001336795.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827517802",
      "coordinates": [
        {
          "allele": "A",
          "end": 2553,
          "referenceAllele": "G",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349867.1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336796.1:p.Glu573Lys",
        "hgvsWellDefined": "NP_001336796.1:p.Glu573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827459714",
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "referenceAllele": "G",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349868.1:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336797.1:p.Glu525Lys",
        "hgvsWellDefined": "NP_001336797.1:p.Glu525Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827460642",
      "coordinates": [
        {
          "allele": "A",
          "end": 2391,
          "referenceAllele": "G",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349869.1:c.1555G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336798.1:p.Glu519Lys",
        "hgvsWellDefined": "NP_001336798.1:p.Glu519Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580292475",
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "referenceAllele": "G",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_003560.3:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003551.2:p.Glu751Lys",
        "hgvsWellDefined": "NP_003551.2:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2343,
          "referenceAllele": "G",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261764.3:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261821.1:p.Glu751Lys",
        "hgvsWellDefined": "XP_005261821.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2339,
          "referenceAllele": "G",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261765.2:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261822.1:p.Glu751Lys",
        "hgvsWellDefined": "XP_005261822.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2364,
          "referenceAllele": "G",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_006724332.4:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724395.1:p.Glu751Lys",
        "hgvsWellDefined": "XP_006724395.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2436,
          "referenceAllele": "G",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_017028983.1:c.1555G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884472.1:p.Glu519Lys",
        "hgvsWellDefined": "XP_016884472.1:p.Glu519Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2533,
          "referenceAllele": "G",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452280.1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308048.1:p.Glu573Lys",
        "hgvsWellDefined": "XP_024308048.1:p.Glu573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2460,
          "referenceAllele": "G",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452281.1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308049.1:p.Glu573Lys",
        "hgvsWellDefined": "XP_024308049.1:p.Glu573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452282.1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308050.1:p.Glu573Lys",
        "hgvsWellDefined": "XP_024308050.1:p.Glu573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2155,
          "referenceAllele": "G",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452283.1:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308051.1:p.Glu525Lys",
        "hgvsWellDefined": "XP_024308051.1:p.Glu525Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2367,
          "referenceAllele": "G",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452284.1:c.1555G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308052.1:p.Glu519Lys",
        "hgvsWellDefined": "XP_024308052.1:p.Glu519Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452285.1:c.1555G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308053.1:p.Glu519Lys",
        "hgvsWellDefined": "XP_024308053.1:p.Glu519Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XR_001755325.2:n.2434G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XR_001755327.2:n.2429G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2395,
          "referenceAllele": "G",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XR_001755328.2:n.2395G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826244783",
      "coordinates": [
        {
          "allele": "A",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001199562.3:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186491.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001186491.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827516051",
      "coordinates": [
        {
          "allele": "A",
          "end": 2459,
          "referenceAllele": "G",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349864.2:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336793.1:p.Glu751Lys",
        "hgvsWellDefined": "NP_001336793.1:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827516668",
      "coordinates": [
        {
          "allele": "A",
          "end": 2297,
          "referenceAllele": "G",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349865.2:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336794.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001336794.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827517285",
      "coordinates": [
        {
          "allele": "A",
          "end": 2177,
          "referenceAllele": "G",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349866.2:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336795.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001336795.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827517802",
      "coordinates": [
        {
          "allele": "A",
          "end": 2474,
          "referenceAllele": "G",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349867.2:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336796.1:p.Glu573Lys",
        "hgvsWellDefined": "NP_001336796.1:p.Glu573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827459714",
      "coordinates": [
        {
          "allele": "A",
          "end": 2151,
          "referenceAllele": "G",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349868.2:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336797.1:p.Glu525Lys",
        "hgvsWellDefined": "NP_001336797.1:p.Glu525Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827460642",
      "coordinates": [
        {
          "allele": "A",
          "end": 2312,
          "referenceAllele": "G",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349869.2:c.1555G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336798.1:p.Glu519Lys",
        "hgvsWellDefined": "NP_001336798.1:p.Glu519Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580292475",
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "referenceAllele": "G",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_003560.4:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003551.2:p.Glu751Lys",
        "hgvsWellDefined": "NP_003551.2:p.Glu751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332509.8:c.2251G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003560.4:c.2251G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333142.3:p.Glu751Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003551.2:p.Glu751Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825266559",
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001004426.3:c.2089G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004426.1:p.Glu697Lys",
        "hgvsWellDefined": "NP_001004426.1:p.Glu697Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711038"
    }
  ],
  "type": "nucleotide"
}