{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA217220",
  "communityStandardTitle": [
    "NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77401[alleleid]",
        "alleleId": 77401,
        "preferredName": "NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66504",
        "RCV": [
          "RCV000056907",
          "RCV000192142"
        ],
        "variationId": 66504
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42990647T>C?assembly=hg19",
        "id": "chr17:g.42990647T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44913279T>C?assembly=hg38",
        "id": "chr17:g.44913279T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607505",
        "rs": 267607505
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 44913279,
          "referenceAllele": "T",
          "start": 44913278
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44913279T>C",
        "CM000679.2:g.44913279T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 42990647,
          "referenceAllele": "T",
          "start": 42990646
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42990647T>C",
        "CM000679.1:g.42990647T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 40346173,
          "referenceAllele": "T",
          "start": 40346172
        }
      ],
      "hgvs": [
        "NC_000017.9:g.40346173T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7268,
          "referenceAllele": "A",
          "start": 7267
        }
      ],
      "hgvs": [
        "NG_008401.1:g.7268A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001080"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.11:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000253408.5:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.8:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000403962.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.10:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000253408.5:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741599"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.7:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000403962.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586127.6:n.1299A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586793.6:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468500.2:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000468500.2:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000587997.6:n.246A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.3:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.2:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000466598.2:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.770A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.770A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Tyr257Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Tyr257Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1924,
          "referenceAllele": "A",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000591327.2:n.1924A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 449,
          "referenceAllele": "A",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592320.6:c.618+449A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465320.1:n.618+449A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "A",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638281.1:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491088.1:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000491088.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "referenceAllele": "A",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638618.1:c.425A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492832.1:p.Tyr142Cys",
        "hgvsWellDefined": "ENSP00000492832.1:p.Tyr142Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639277.1:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492432.1:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000492432.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000640552.1:n.784A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.9:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.4:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000253408.4:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "A",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000376990.8:c.*169A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366189.4:n.*169A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.6:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000403962.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586793.5:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468500.1:p.Tyr257Cys",
        "hgvsWellDefined": "ENSP00000468500.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000587997.5:c.246A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "referenceAllele": "A",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588316.1:c.674A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465629.1:p.Tyr225Cys",
        "hgvsWellDefined": "ENSP00000465629.1:p.Tyr225Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96,
          "endIntronDirection": "+",
          "endIntronOffset": 2126,
          "referenceAllele": "A",
          "start": 96,
          "startIntronDirection": "+",
          "startIntronOffset": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.1:c.82+2126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.1:n.82+2126A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588957.5:c.38A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465565.1:p.Tyr13Cys",
        "hgvsWellDefined": "ENSP00000465565.1:p.Tyr13Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "A",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000590922.1:n.420A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 449,
          "referenceAllele": "A",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592320.5:c.618+449A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465320.1:n.618+449A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774484",
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001131019.2:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124491.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_001124491.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298114",
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.1:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_001229305.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102898",
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.4:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_002046.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828120321",
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.1:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_001350775.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450690.1:c.974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306458.1:p.Tyr325Cys",
        "hgvsWellDefined": "XP_024306458.1:p.Tyr325Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450691.1:c.974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306459.1:p.Tyr325Cys",
        "hgvsWellDefined": "XP_024306459.1:p.Tyr325Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450692.1:c.974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306460.1:p.Tyr325Cys",
        "hgvsWellDefined": "XP_024306460.1:p.Tyr325Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450693.1:c.974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306461.1:p.Tyr325Cys",
        "hgvsWellDefined": "XP_024306461.1:p.Tyr325Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102898",
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.5:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_002046.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.770A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.770A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Tyr257Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Tyr257Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774484",
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001131019.3:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124491.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_001124491.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677194"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298114",
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.2:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_001229305.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298114",
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.3:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_001229305.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828120321",
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.2:c.770A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Tyr257Cys",
        "hgvsWellDefined": "NP_001350775.1:p.Tyr257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720802"
    }
  ],
  "type": "nucleotide"
}