{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388311935",
  "communityStandardTitle": [
    "NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513214[alleleid]",
        "alleleId": 513214,
        "preferredName": "NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522601",
        "RCV": [
          "RCV000625737",
          "RCV000627363",
          "RCV001868156"
        ],
        "variationId": 522601
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77574702G>A?assembly=hg19",
        "id": "chr13:g.77574702G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77000567G>A?assembly=hg38",
        "id": "chr13:g.77000567G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555274338",
        "rs": 1555274338
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 77000567,
          "referenceAllele": "G",
          "start": 77000566
        }
      ],
      "hgvs": [
        "NC_000013.11:g.77000567G>A",
        "CM000675.2:g.77000567G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 77574702,
          "referenceAllele": "G",
          "start": 77574701
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77574702G>A",
        "CM000675.1:g.77574702G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 76472703,
          "referenceAllele": "G",
          "start": 76472702
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76472703G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13644,
          "referenceAllele": "G",
          "start": 13643
        }
      ],
      "hgvs": [
        "NG_009064.1:g.13644G>A",
        "LRG_692:g.13644G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.9:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.5:p.Trp225Ter",
        "hgvsWellDefined": "ENSP00000366673.5:p.Trp225_Leu358delinsPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.675G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.675G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Trp225Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Trp225Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.6:c.*117G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.3:n.*117G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "endIntronDirection": "+",
          "endIntronOffset": 4440,
          "referenceAllele": "G",
          "start": 174,
          "startIntronDirection": "+",
          "startIntronOffset": 4439
        }
      ],
      "hgvs": [
        "ENST00000635838.1:c.174+4440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 4440,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635905.1:n.566+4440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635915.1:c.673G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:p.Trp225Ter",
        "hgvsWellDefined": "ENSP00000490181.2:p.Trp225_Leu358delinsPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "endIntronDirection": "+",
          "endIntronOffset": 4440,
          "referenceAllele": "G",
          "start": 568,
          "startIntronDirection": "+",
          "startIntronOffset": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636525.2:c.565+4440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490078.2:n.565+4440G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "referenceAllele": "G",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636681.1:c.*366G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489922.1:n.*366G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636705.1:c.511G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 4440,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636767.2:c.565+4440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489855.2:n.565+4440G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.*124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:n.*124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 4440,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 4439
        }
      ],
      "hgvs": [
        "ENST00000637192.1:c.213+4440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637278.1:n.1001G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 4440,
          "referenceAllele": "G",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637397.2:c.565+4440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490422.2:n.565+4440G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 4440,
          "referenceAllele": "G",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 4439
        }
      ],
      "hgvs": [
        "ENST00000638101.1:c.169+4440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490535.1:n.169+4440G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 4440,
          "referenceAllele": "G",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 4439
        }
      ],
      "hgvs": [
        "ENST00000638147.2:c.565+4440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490953.2:n.565+4440G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Trp274Ter",
        "hgvsWellDefined": "ENSP00000366673.3:p.Trp274_Leu407delinsPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1742,
          "referenceAllele": "C",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000477982.2:n.1742C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 7615,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 7616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000485797.2:n.174-7616C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.4:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.1:p.Trp225Ter",
        "hgvsWellDefined": "ENSP00000479547.1:p.Trp225_Leu358delinsPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658816928",
      "coordinates": [
        {
          "allele": "A",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.822G>A",
        "LRG_692t1:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Trp274Ter",
        "hgvsWellDefined": "NP_006484.1:p.Trp274_Leu407delinsPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "XM_011534917.1:c.*124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533219.1:n.*124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.*124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:n.*124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976616",
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Trp225Ter",
        "hgvsWellDefined": "NP_006484.2:p.Trp225_Leu358delinsPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 7615,
          "referenceAllele": "C",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 7616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-7616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-7616C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.*124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:n.*124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976616",
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Trp225Ter",
        "hgvsWellDefined": "NP_006484.2:p.Trp225_Leu358delinsPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.675G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.675G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Trp225Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Trp225Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}