{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1742108",
  "communityStandardTitle": [
    "NM_000821.7(GGCX):c.529A>G (p.Asn177Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=291111[alleleid]",
        "alleleId": 291111,
        "preferredName": "NM_000821.7(GGCX):c.529A>G (p.Asn177Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/337273",
        "RCV": [
          "RCV000323161",
          "RCV000907563",
          "RCV003910308"
        ],
        "variationId": 337273
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-85785573-T-C",
        "id": "2-85785573-T-C",
        "variant": "2:85785573 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.85785573T>C?assembly=hg19",
        "id": "chr2:g.85785573T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.85558450T>C?assembly=hg38",
        "id": "chr2:g.85558450T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149039591",
        "rs": 149039591
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-85785573-T-C?dataset=gnomad_r2_1",
        "id": "2-85785573-T-C",
        "variant": "2:85785573 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-85558450-T-C?dataset=gnomad_r3",
        "id": "2-85558450-T-C",
        "variant": "2:85558450 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-85558450-T-C?dataset=gnomad_r4",
        "id": "2-85558450-T-C",
        "variant": "2:85558450 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 85558450,
          "referenceAllele": "T",
          "start": 85558449
        }
      ],
      "hgvs": [
        "NC_000002.12:g.85558450T>C",
        "CM000664.2:g.85558450T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 85785573,
          "referenceAllele": "T",
          "start": 85785572
        }
      ],
      "hgvs": [
        "NC_000002.11:g.85785573T>C",
        "CM000664.1:g.85785573T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 85639084,
          "referenceAllele": "T",
          "start": 85639083
        }
      ],
      "hgvs": [
        "NC_000002.10:g.85639084T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8085,
          "referenceAllele": "A",
          "start": 8084
        }
      ],
      "hgvs": [
        "NG_011811.2:g.8085A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001994"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000473665.2:n.626A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000482662.2:n.567A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "A",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000685865.1:n.932A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "referenceAllele": "A",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000687250.1:n.632A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 881,
          "referenceAllele": "A",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000687995.1:n.881A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "referenceAllele": "A",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000688205.1:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509673.1:p.Asn177Asp",
        "hgvsWellDefined": "ENSP00000509673.1:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831499"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "A",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000688788.1:n.932A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000689276.1:c.460A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510012.1:p.Asn154Asp",
        "hgvsWellDefined": "ENSP00000510012.1:p.Asn154Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "referenceAllele": "A",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000689576.1:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508712.1:p.Asn177Asp",
        "hgvsWellDefined": "ENSP00000508712.1:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 629,
          "referenceAllele": "A",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000690108.1:c.*185A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510617.1:n.*185A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000690468.1:c.329A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509078.1:p.Lys110Arg",
        "hgvsWellDefined": "ENSP00000509078.1:p.Lys110Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 2365,
          "referenceAllele": "A",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000690595.1:c.214+2365A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508979.1:n.214+2365A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "A",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000691348.1:c.358A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509369.1:p.Asn120Asp",
        "hgvsWellDefined": "ENSP00000509369.1:p.Asn120Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "A",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000691410.1:c.*185A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508479.1:n.*185A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108,
          "endIntronDirection": "-",
          "endIntronOffset": 2859,
          "referenceAllele": "A",
          "start": 108,
          "startIntronDirection": "-",
          "startIntronOffset": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000693287.1:c.-66-2860A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510264.1:n.-66-2860A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 467,
          "referenceAllele": "A",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000693681.1:c.202+467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510789.1:n.202+467A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "A",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000233838.9:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233838.3:p.Asn177Asp",
        "hgvsWellDefined": "ENSP00000233838.3:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740931",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233838.9:c.529A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000821.7:c.529A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233838.3:p.Asn177Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000812.2:p.Asn177Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 610,
          "referenceAllele": "A",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000233838.8:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233838.3:p.Asn177Asp",
        "hgvsWellDefined": "ENSP00000233838.3:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000421496.5:c.*185A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400384.1:n.*185A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 89,
          "referenceAllele": "A",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000423570.5:c.*96+89A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389426.1:n.*96+89A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "referenceAllele": "A",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000428479.3:c.*193A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390748.3:n.*193A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000430215.7:c.358A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408045.3:p.Asn120Asp",
        "hgvsWellDefined": "ENSP00000408045.3:p.Asn120Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "+",
          "endIntronOffset": 556,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "+",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000465637.5:n.178+556A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645386480",
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "A",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_000821.5:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000812.2:p.Asn177Asp",
        "hgvsWellDefined": "NP_000812.2:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645386480",
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "A",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_000821.6:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000812.2:p.Asn177Asp",
        "hgvsWellDefined": "NP_000812.2:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825837893",
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "referenceAllele": "A",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_001142269.2:c.358A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135741.1:p.Asn120Asp",
        "hgvsWellDefined": "NP_001135741.1:p.Asn120Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825837893",
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "referenceAllele": "A",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_001142269.3:c.358A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135741.1:p.Asn120Asp",
        "hgvsWellDefined": "NP_001135741.1:p.Asn120Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "A",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_005264259.3:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264316.1:p.Asn177Asp",
        "hgvsWellDefined": "XP_005264316.1:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_011532764.1:c.-130A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531066.1:n.-130A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_011532765.1:c.-130A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531067.1:n.-130A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "A",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XR_939677.1:n.594A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "A",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_005264259.5:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264316.1:p.Asn177Asp",
        "hgvsWellDefined": "XP_005264316.1:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "A",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_011532764.3:c.-130A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531066.1:n.-130A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_011532765.3:c.-130A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531067.1:n.-130A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "referenceAllele": "A",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_017003803.2:c.358A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859292.1:p.Asn120Asp",
        "hgvsWellDefined": "XP_016859292.1:p.Asn120Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "A",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XR_001738703.2:n.594A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645386480",
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "A",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_000821.7:c.529A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000812.2:p.Asn177Asp",
        "hgvsWellDefined": "NP_000812.2:p.Asn177Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233838.9:c.529A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000821.7:c.529A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233838.3:p.Asn177Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000812.2:p.Asn177Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825837893",
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_001142269.4:c.358A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135741.1:p.Asn120Asp",
        "hgvsWellDefined": "NP_001135741.1:p.Asn120Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677483"
    }
  ],
  "type": "nucleotide"
}