{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5040894",
  "communityStandardTitle": [
    "NM_032634.4(PIGO):c.599A>G (p.Asn200Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=836126[alleleid]",
        "alleleId": 836126,
        "preferredName": "NM_032634.4(PIGO):c.599A>G (p.Asn200Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/856356",
        "RCV": [
          "RCV001061800"
        ],
        "variationId": 856356
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-35094269-T-C",
        "id": "9-35094269-T-C",
        "variant": "9:35094269 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35094269T>C?assembly=hg19",
        "id": "chr9:g.35094269T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35094272T>C?assembly=hg38",
        "id": "chr9:g.35094272T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755621448",
        "rs": 755621448
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-35094269-T-C?dataset=gnomad_r2_1",
        "id": "9-35094269-T-C",
        "variant": "9:35094269 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-35094272-T-C?dataset=gnomad_r3",
        "id": "9-35094272-T-C",
        "variant": "9:35094272 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-35094272-T-C?dataset=gnomad_r4",
        "id": "9-35094272-T-C",
        "variant": "9:35094272 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35094272,
          "referenceAllele": "T",
          "start": 35094271
        }
      ],
      "hgvs": [
        "NC_000009.12:g.35094272T>C",
        "CM000671.2:g.35094272T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35094269,
          "referenceAllele": "T",
          "start": 35094268
        }
      ],
      "hgvs": [
        "NC_000009.11:g.35094269T>C",
        "CM000671.1:g.35094269T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35084269,
          "referenceAllele": "T",
          "start": 35084268
        }
      ],
      "hgvs": [
        "NC_000009.10:g.35084269T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7330,
          "referenceAllele": "A",
          "start": 7329
        }
      ],
      "hgvs": [
        "NG_031990.1:g.7330A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005081"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "A",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000361778.7:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354678.2:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000354678.2:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1286,
          "referenceAllele": "A",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700254.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514892.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514892.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700255.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514893.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514893.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700256.1:n.631A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700257.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514894.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514894.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700259.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514895.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514895.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700260.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514896.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514896.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 628,
          "referenceAllele": "A",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700261.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514897.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514897.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "A",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700262.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514898.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514898.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700263.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514899.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514899.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000700264.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514900.1:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000514900.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000378617.4:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367880.3:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000367880.3:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378617.4:c.599A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032634.4:c.599A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367880.3:p.Asn200Ser"
          },
          "RefSeq": {
            "hgvs": "NP_116023.2:p.Asn200Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "referenceAllele": "A",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000298004.9:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298004.5:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000298004.5:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "A",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000361778.6:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354678.2:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000354678.2:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "A",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000378617.3:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367880.3:p.Asn200Ser",
        "hgvsWellDefined": "ENSP00000367880.3:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "A",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000465745.6:n.616A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000472208.1:n.700A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1584,
          "referenceAllele": "A",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "ENST00000474436.1:n.1584A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315960"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826256026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "A",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "NM_001201484.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188413.1:p.Asn200Ser",
        "hgvsWellDefined": "NP_001188413.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017358"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830093901",
      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "referenceAllele": "A",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "NM_032634.3:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116023.2:p.Asn200Ser",
        "hgvsWellDefined": "NP_116023.2:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039231"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764795",
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "A",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "NM_152850.3:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_690577.2:p.Asn200Ser",
        "hgvsWellDefined": "NP_690577.2:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XM_005251619.2:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251676.1:p.Asn200Ser",
        "hgvsWellDefined": "XP_005251676.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 623,
          "referenceAllele": "A",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XM_011518056.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516358.1:p.Asn200Ser",
        "hgvsWellDefined": "XP_011516358.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XR_242515.1:n.620A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XM_005251619.3:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251676.1:p.Asn200Ser",
        "hgvsWellDefined": "XP_005251676.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1112,
          "referenceAllele": "A",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XM_017015222.2:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870711.1:p.Asn200Ser",
        "hgvsWellDefined": "XP_016870711.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "referenceAllele": "A",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XM_017015223.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870712.1:p.Asn200Ser",
        "hgvsWellDefined": "XP_016870712.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1286,
          "referenceAllele": "A",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XM_017015224.1:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870713.1:p.Asn200Ser",
        "hgvsWellDefined": "XP_016870713.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "referenceAllele": "A",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XR_001746390.1:n.1022A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XR_001746391.2:n.620A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "XR_242515.3:n.620A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830093901",
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "NM_032634.4:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116023.2:p.Asn200Ser",
        "hgvsWellDefined": "NP_116023.2:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699161",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378617.4:c.599A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032634.4:c.599A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367880.3:p.Asn200Ser"
          },
          "RefSeq": {
            "hgvs": "NP_116023.2:p.Asn200Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826256026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1135,
          "referenceAllele": "A",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "NM_001201484.2:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188413.1:p.Asn200Ser",
        "hgvsWellDefined": "NP_001188413.1:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764795",
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "NM_152850.4:c.599A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_690577.2:p.Asn200Ser",
        "hgvsWellDefined": "NP_690577.2:p.Asn200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729432"
    }
  ],
  "type": "nucleotide"
}