{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA173265",
  "communityStandardTitle": [
    "NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21234[alleleid]",
        "alleleId": 21234,
        "preferredName": "NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6195",
        "RCV": [
          "RCV000006572",
          "RCV000147321",
          "RCV000323935",
          "RCV000623021",
          "RCV000778661",
          "RCV000763481",
          "RCV001250474",
          "RCV001333134",
          "RCV001813959",
          "RCV002265549",
          "RCV003407288"
        ],
        "variationId": 6195
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-38508219-A-C",
        "id": "22-38508219-A-C",
        "variant": "22:38508219 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.38508219A>C?assembly=hg19",
        "id": "chr22:g.38508219A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.38112212A>C?assembly=hg38",
        "id": "chr22:g.38112212A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908680",
        "rs": 121908680
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-38508219-A-C?dataset=gnomad_r2_1",
        "id": "22-38508219-A-C",
        "variant": "22:38508219 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-38112212-A-C?dataset=gnomad_r3",
        "id": "22-38112212-A-C",
        "variant": "22:38112212 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-38112212-A-C?dataset=gnomad_r4",
        "id": "22-38112212-A-C",
        "variant": "22:38112212 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 38112212,
          "referenceAllele": "A",
          "start": 38112211
        }
      ],
      "hgvs": [
        "NC_000022.11:g.38112212A>C",
        "CM000684.2:g.38112212A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 38508219,
          "referenceAllele": "A",
          "start": 38508218
        }
      ],
      "hgvs": [
        "NC_000022.10:g.38508219A>C",
        "CM000684.1:g.38508219A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 36838165,
          "referenceAllele": "A",
          "start": 36838164
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36838165A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98479,
          "referenceAllele": "T",
          "start": 98478
        }
      ],
      "hgvs": [
        "NG_007094.2:g.98479T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3458,
          "referenceAllele": "T",
          "start": 3457
        }
      ],
      "hgvs": [
        "NG_033059.2:g.3458T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107567,
          "referenceAllele": "T",
          "start": 107566
        }
      ],
      "hgvs": [
        "NG_007094.3:g.107567T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733306"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2582,
          "referenceAllele": "T",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000332509.8:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333142.3:p.Tyr790Ter",
        "hgvsWellDefined": "ENSP00000333142.3:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747235",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332509.8:c.2370T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003560.4:c.2370T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333142.3:p.Tyr790Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003551.2:p.Tyr790Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2128,
          "referenceAllele": "T",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000436218.6:c.*1568T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401242.1:n.*1568T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000655142.1:c.*1228T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499715.1:n.*1228T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2737,
          "referenceAllele": "T",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000660610.1:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499555.1:p.Tyr790Ter",
        "hgvsWellDefined": "ENSP00000499555.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2454,
          "referenceAllele": "T",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000663895.1:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499712.1:p.Tyr790Ter",
        "hgvsWellDefined": "ENSP00000499712.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2329,
          "referenceAllele": "T",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000664587.1:c.2232T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499394.1:p.Tyr744Ter",
        "hgvsWellDefined": "ENSP00000499394.1:p.Tyr744_Pro760delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2422,
          "referenceAllele": "T",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000665987.1:c.*2109T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499423.1:n.*2109T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2432,
          "referenceAllele": "T",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000667521.1:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499665.1:p.Tyr790Ter",
        "hgvsWellDefined": "ENSP00000499665.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2611,
          "referenceAllele": "T",
          "start": 2610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000668499.1:c.*2229T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499626.1:n.*2229T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2501,
          "referenceAllele": "T",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000668949.1:c.2412T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499711.1:p.Tyr804Ter",
        "hgvsWellDefined": "ENSP00000499711.1:p.Tyr804_Pro820delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000671093.1:n.2302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2421,
          "referenceAllele": "T",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000673413.1:c.*2039T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500600.1:n.*2039T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2554,
          "referenceAllele": "T",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000332509.7:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333142.3:p.Tyr790Ter",
        "hgvsWellDefined": "ENSP00000333142.3:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2344,
          "referenceAllele": "T",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000335539.7:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335149.3:p.Tyr736Ter",
        "hgvsWellDefined": "ENSP00000335149.3:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2299,
          "referenceAllele": "T",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000402064.5:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386100.1:p.Tyr736Ter",
        "hgvsWellDefined": "ENSP00000386100.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 446,
          "referenceAllele": "T",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "ENST00000463287.1:n.446T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825266617",
      "coordinates": [
        {
          "allele": "G",
          "end": 2344,
          "referenceAllele": "T",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001004426.1:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004426.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001004426.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826244809",
      "coordinates": [
        {
          "allele": "G",
          "end": 2299,
          "referenceAllele": "T",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001199562.1:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186491.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001186491.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173266",
      "coordinates": [
        {
          "allele": "G",
          "end": 2506,
          "referenceAllele": "T",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_003560.2:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003551.2:p.Tyr790Ter",
        "hgvsWellDefined": "NP_003551.2:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2478,
          "referenceAllele": "T",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261764.1:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261821.1:p.Tyr790Ter",
        "hgvsWellDefined": "XP_005261821.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2478,
          "referenceAllele": "T",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261765.1:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261822.1:p.Tyr790Ter",
        "hgvsWellDefined": "XP_005261822.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2573,
          "referenceAllele": "T",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261766.1:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261823.1:p.Tyr790Ter",
        "hgvsWellDefined": "XP_005261823.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "T",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_006724332.2:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724395.1:p.Tyr790Ter",
        "hgvsWellDefined": "XP_006724395.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2357,
          "referenceAllele": "T",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_011530422.1:c.2265T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528724.1:p.Tyr755Ter",
        "hgvsWellDefined": "XP_011528724.1:p.Tyr755_Pro771delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2593,
          "referenceAllele": "T",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_011530423.1:c.1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528725.1:p.Tyr612Ter",
        "hgvsWellDefined": "XP_011528725.1:p.Tyr612_Pro628delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2717,
          "referenceAllele": "T",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_011530424.1:c.1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528726.1:p.Tyr612Ter",
        "hgvsWellDefined": "XP_011528726.1:p.Tyr612_Pro628delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2417,
          "referenceAllele": "T",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_011530425.1:c.1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528727.1:p.Tyr612Ter",
        "hgvsWellDefined": "XP_011528727.1:p.Tyr612_Pro628delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825266617",
      "coordinates": [
        {
          "allele": "G",
          "end": 2420,
          "referenceAllele": "T",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001004426.2:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004426.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001004426.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826244809",
      "coordinates": [
        {
          "allele": "G",
          "end": 2379,
          "referenceAllele": "T",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001199562.2:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186491.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001186491.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827516078",
      "coordinates": [
        {
          "allele": "G",
          "end": 2578,
          "referenceAllele": "T",
          "start": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349864.1:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336793.1:p.Tyr790Ter",
        "hgvsWellDefined": "NP_001336793.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827516696",
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "referenceAllele": "T",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349865.1:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336794.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001336794.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827517313",
      "coordinates": [
        {
          "allele": "G",
          "end": 2375,
          "referenceAllele": "T",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349866.1:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336795.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001336795.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827517829",
      "coordinates": [
        {
          "allele": "G",
          "end": 2672,
          "referenceAllele": "T",
          "start": 2671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349867.1:c.1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336796.1:p.Tyr612Ter",
        "hgvsWellDefined": "NP_001336796.1:p.Tyr612_Pro628delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827459785",
      "coordinates": [
        {
          "allele": "G",
          "end": 2349,
          "referenceAllele": "T",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349868.1:c.1692T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336797.1:p.Tyr564Ter",
        "hgvsWellDefined": "NP_001336797.1:p.Tyr564_Pro580delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827460701",
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "T",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349869.1:c.1674T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336798.1:p.Tyr558Ter",
        "hgvsWellDefined": "NP_001336798.1:p.Tyr558_Pro574delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173266",
      "coordinates": [
        {
          "allele": "G",
          "end": 2582,
          "referenceAllele": "T",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_003560.3:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003551.2:p.Tyr790Ter",
        "hgvsWellDefined": "NP_003551.2:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2462,
          "referenceAllele": "T",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261764.3:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261821.1:p.Tyr790Ter",
        "hgvsWellDefined": "XP_005261821.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2458,
          "referenceAllele": "T",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_005261765.2:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261822.1:p.Tyr790Ter",
        "hgvsWellDefined": "XP_005261822.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2483,
          "referenceAllele": "T",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_006724332.4:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724395.1:p.Tyr790Ter",
        "hgvsWellDefined": "XP_006724395.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2555,
          "referenceAllele": "T",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_017028983.1:c.1674T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884472.1:p.Tyr558Ter",
        "hgvsWellDefined": "XP_016884472.1:p.Tyr558_Pro574delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2652,
          "referenceAllele": "T",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452280.1:c.1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308048.1:p.Tyr612Ter",
        "hgvsWellDefined": "XP_024308048.1:p.Tyr612_Pro628delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2579,
          "referenceAllele": "T",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452281.1:c.1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308049.1:p.Tyr612Ter",
        "hgvsWellDefined": "XP_024308049.1:p.Tyr612_Pro628delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2342,
          "referenceAllele": "T",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452282.1:c.1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308050.1:p.Tyr612Ter",
        "hgvsWellDefined": "XP_024308050.1:p.Tyr612_Pro628delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2274,
          "referenceAllele": "T",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452283.1:c.1692T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308051.1:p.Tyr564Ter",
        "hgvsWellDefined": "XP_024308051.1:p.Tyr564_Pro580delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2486,
          "referenceAllele": "T",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452284.1:c.1674T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308052.1:p.Tyr558Ter",
        "hgvsWellDefined": "XP_024308052.1:p.Tyr558_Pro574delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2417,
          "referenceAllele": "T",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XM_024452285.1:c.1674T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308053.1:p.Tyr558Ter",
        "hgvsWellDefined": "XP_024308053.1:p.Tyr558_Pro574delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2553,
          "referenceAllele": "T",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XR_001755325.2:n.2553T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2548,
          "referenceAllele": "T",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XR_001755327.2:n.2548T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2514,
          "referenceAllele": "T",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "XR_001755328.2:n.2514T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826244809",
      "coordinates": [
        {
          "allele": "G",
          "end": 2300,
          "referenceAllele": "T",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001199562.3:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186491.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001186491.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827516078",
      "coordinates": [
        {
          "allele": "G",
          "end": 2578,
          "referenceAllele": "T",
          "start": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349864.2:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336793.1:p.Tyr790Ter",
        "hgvsWellDefined": "NP_001336793.1:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827516696",
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "referenceAllele": "T",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349865.2:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336794.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001336794.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827517313",
      "coordinates": [
        {
          "allele": "G",
          "end": 2296,
          "referenceAllele": "T",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349866.2:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336795.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001336795.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827517829",
      "coordinates": [
        {
          "allele": "G",
          "end": 2593,
          "referenceAllele": "T",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349867.2:c.1836T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336796.1:p.Tyr612Ter",
        "hgvsWellDefined": "NP_001336796.1:p.Tyr612_Pro628delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827459785",
      "coordinates": [
        {
          "allele": "G",
          "end": 2270,
          "referenceAllele": "T",
          "start": 2269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349868.2:c.1692T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336797.1:p.Tyr564Ter",
        "hgvsWellDefined": "NP_001336797.1:p.Tyr564_Pro580delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827460701",
      "coordinates": [
        {
          "allele": "G",
          "end": 2431,
          "referenceAllele": "T",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001349869.2:c.1674T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336798.1:p.Tyr558Ter",
        "hgvsWellDefined": "NP_001336798.1:p.Tyr558_Pro574delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173266",
      "coordinates": [
        {
          "allele": "G",
          "end": 2582,
          "referenceAllele": "T",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_003560.4:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003551.2:p.Tyr790Ter",
        "hgvsWellDefined": "NP_003551.2:p.Tyr790_Pro806delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332509.8:c.2370T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003560.4:c.2370T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333142.3:p.Tyr790Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003551.2:p.Tyr790Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825266617",
      "coordinates": [
        {
          "allele": "G",
          "end": 2420,
          "referenceAllele": "T",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
      "geneSymbol": "PLA2G6",
      "hgvs": [
        "NM_001004426.3:c.2208T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004426.1:p.Tyr736Ter",
        "hgvsWellDefined": "NP_001004426.1:p.Tyr736_Pro752delinsGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711038"
    }
  ],
  "type": "nucleotide"
}