{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021385",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25806[alleleid]",
        "alleleId": 25806,
        "preferredName": "NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10767",
        "RCV": [
          "RCV000011514",
          "RCV001781220"
        ],
        "variationId": 10767
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100652992A>T?assembly=hg19",
        "id": "chrX:g.100652992A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101398004A>T?assembly=hg38",
        "id": "chrX:g.101398004A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894849",
        "rs": 104894849
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 101398004,
          "referenceAllele": "A",
          "start": 101398003
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101398004A>T",
        "CM000685.2:g.101398004A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100652992,
          "referenceAllele": "A",
          "start": 100652991
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100652992A>T",
        "CM000685.1:g.100652992A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100539648,
          "referenceAllele": "A",
          "start": 100539647
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100539648A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14960,
          "referenceAllele": "T",
          "start": 14959
        }
      ],
      "hgvs": [
        "NG_007119.1:g.14960T>A",
        "LRG_672:g.14960T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "T",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.*541T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:n.*541T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1289,
          "referenceAllele": "T",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.*598T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:n.*598T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "T",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.1170T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Tyr390Ter",
        "hgvsWellDefined": "ENSP00000518234.1:p.Tyr390_Leu454delinsThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "T",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.1095T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Tyr365Ter",
        "hgvsWellDefined": "ENSP00000218516.4:p.Tyr365_Leu429delinsThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.1095T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.1095T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Tyr365Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Tyr365Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "T",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.1231T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "T",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.2517T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1709,
          "referenceAllele": "T",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.1709T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1112,
          "referenceAllele": "T",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.*403T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:n.*403T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.6:c.1140T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1227,
          "referenceAllele": "T",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.1218T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Tyr406Ter",
        "hgvsWellDefined": "ENSP00000498186.1:p.Tyr406_Leu470delinsThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.1195T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:n.1195T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.1399T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "T",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.897T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:p.Tyr299Ter",
        "hgvsWellDefined": "ENSP00000502239.1:p.Tyr299_Leu363delinsThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1279,
          "referenceAllele": "T",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.*620T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:n.*620T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3966,
          "referenceAllele": "T",
          "start": 3965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.3966T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "referenceAllele": "T",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.1059T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Tyr353Ter",
        "hgvsWellDefined": "ENSP00000501730.1:p.Tyr353_Leu417delinsThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "referenceAllele": "T",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.1161T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:n.1161T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "T",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.1095T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Tyr365Ter",
        "hgvsWellDefined": "ENSP00000218516.3:p.Tyr365_Leu429delinsThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 2547,
          "referenceAllele": "A",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.300+2547A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.300+2547A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6182,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.177+6182A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.177+6182A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "T",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.1:n.421T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.*483T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:n.*483T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255529",
      "coordinates": [
        {
          "allele": "A",
          "end": 1205,
          "referenceAllele": "T",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.1095T>A",
        "LRG_672t1:c.1095T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Tyr365Ter",
        "hgvsWellDefined": "NP_000160.1:p.Tyr365_Leu429delinsThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 2547,
          "referenceAllele": "A",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.408+2547A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.408+2547A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 6182,
          "referenceAllele": "A",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 6181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.285+6182A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.285+6182A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "T",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.1180T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "T",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.1201T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 2547,
          "referenceAllele": "A",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+2547A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+2547A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6182,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+6182A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+6182A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255529",
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "T",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.1095T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Tyr365Ter",
        "hgvsWellDefined": "NP_000160.1:p.Tyr365_Leu429delinsThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.1095T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.1095T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Tyr365Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Tyr365Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.1174T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}