{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16618984",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.8770_8771insTGGCTGTA (p.Ser2924MetfsTer31)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407905[alleleid]",
        "alleleId": 407905,
        "preferredName": "NM_022124.6(CDH23):c.8770_8771insTGGCTGTA (p.Ser2924fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421302",
        "RCV": [
          "RCV000478292"
        ],
        "variationId": 421302
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73569624_73569625insTGGCTGTA?assembly=hg19",
        "id": "chr10:g.73569624_73569625insTGGCTGTA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71809867_71809868insTGGCTGTA?assembly=hg38",
        "id": "chr10:g.71809867_71809868insTGGCTGTA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795044",
        "rs": 1064795044
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 71809867,
          "referenceAllele": "",
          "start": 71809867
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71809867_71809868insTGGCTGTA",
        "CM000672.2:g.71809867_71809868insTGGCTGTA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 73569624,
          "referenceAllele": "",
          "start": 73569624
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73569624_73569625insTGGCTGTA",
        "CM000672.1:g.73569624_73569625insTGGCTGTA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 73239630,
          "referenceAllele": "",
          "start": 73239630
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73239630_73239631insTGGCTGTA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 417921,
          "referenceAllele": "",
          "start": 417921
        }
      ],
      "hgvs": [
        "NG_008835.1:g.417921_417922insTGGCTGTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9174,
          "referenceAllele": "",
          "start": 9174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.8770_8771insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Ser2924MetfsTer31",
        "hgvsWellDefined": "ENSP00000224721.9:p.[Ser2924_Asp2942delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2944_Asp2953delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.8770_8771insTGGCTGTA"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.8770_8771insTGGCTGTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ser2924MetfsTer31"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ser2924MetfsTer31"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 2703,
          "referenceAllele": "",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000642965.1:c.2703_2704insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495222.1:n.2703_2704insTGGCTGTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767016"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 2367,
          "referenceAllele": "",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000647092.1:c.2367_2368insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495176.1:n.2367_2368insTGGCTGTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769228"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9175,
          "referenceAllele": "",
          "start": 9175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.8785_8786insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Ser2929MetfsTer31",
        "hgvsWellDefined": "ENSP00000224721.8:p.[Ser2929_Asp2947delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2949_Asp2958delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 2367,
          "referenceAllele": "",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398788.4:c.2050_2051insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381768.3:p.Ser684MetfsTer31",
        "hgvsWellDefined": "ENSP00000381768.3:p.[Ser684_Asp702delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala704_Asp713delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278419"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 2306,
          "referenceAllele": "",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000475158.1:n.2306_2307insTGGCTGTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316502"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 2367,
          "referenceAllele": "",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000619887.4:c.2050_2051insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478374.1:p.Ser684MetfsTer31",
        "hgvsWellDefined": "ENSP00000478374.1:p.[Ser684_Asp702delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala704_Asp713delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404567"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9160,
          "referenceAllele": "",
          "start": 9160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.8770_8771insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Ser2924MetfsTer31",
        "hgvsWellDefined": "ENSP00000483211.1:p.[Ser2924_Asp2942delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2944_Asp2953delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 2367,
          "referenceAllele": "",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171933.1:c.2050_2051insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165404.1:p.Ser684MetfsTer31",
        "hgvsWellDefined": "NP_001165404.1:p.[Ser684_Asp702delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala704_Asp713delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015394"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 2367,
          "referenceAllele": "",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171934.1:c.2050_2051insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165405.1:p.Ser684MetfsTer31",
        "hgvsWellDefined": "NP_001165405.1:p.[Ser684_Asp702delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala704_Asp713delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015395"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9160,
          "referenceAllele": "",
          "start": 9160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.8770_8771insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ser2924MetfsTer31",
        "hgvsWellDefined": "NP_071407.4:p.[Ser2924_Asp2942delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2944_Asp2953delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9208,
          "referenceAllele": "",
          "start": 9208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.8965_8966insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Ser2989MetfsTer31",
        "hgvsWellDefined": "XP_006718003.1:p.[Ser2989_Asp3007delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala3009_Asp3018delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9142,
          "referenceAllele": "",
          "start": 9142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.8899_8900insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Ser2967MetfsTer31",
        "hgvsWellDefined": "XP_006718005.1:p.[Ser2967_Asp2985delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2987_Asp2996delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9205,
          "referenceAllele": "",
          "start": 9205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.8962_8963insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Ser2988MetfsTer31",
        "hgvsWellDefined": "XP_011538341.1:p.[Ser2988_Asp3006delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala3008_Asp3017delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9202,
          "referenceAllele": "",
          "start": 9202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.8959_8960insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Ser2987MetfsTer31",
        "hgvsWellDefined": "XP_011538342.1:p.[Ser2987_Asp3005delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala3007_Asp3016delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9160,
          "referenceAllele": "",
          "start": 9160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.8905_8906insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Ser2969MetfsTer31",
        "hgvsWellDefined": "XP_011538343.1:p.[Ser2969_Asp2987delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2989_Asp2998delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9118,
          "referenceAllele": "",
          "start": 9118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.8875_8876insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Ser2959MetfsTer31",
        "hgvsWellDefined": "XP_011538344.1:p.[Ser2959_Asp2977delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2979_Asp2988delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9208,
          "referenceAllele": "",
          "start": 9208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.8965_8966insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Ser2989MetfsTer31",
        "hgvsWellDefined": "XP_011538345.1:p.[Ser2989_Asp3007delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala3009_Asp3018delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 8892,
          "referenceAllele": "",
          "start": 8892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.8830_8831insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Ser2944MetfsTer31",
        "hgvsWellDefined": "XP_011538346.1:p.[Ser2944_Asp2962delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2964_Asp2973delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9208,
          "referenceAllele": "",
          "start": 9208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.8965_8966insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Ser2989MetfsTer31",
        "hgvsWellDefined": "XP_011538347.1:p.[Ser2989_Asp3007delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala3009_Asp3018delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 8630,
          "referenceAllele": "",
          "start": 8630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.8425_8426insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Ser2809MetfsTer31",
        "hgvsWellDefined": "XP_011538348.1:p.[Ser2809_Asp2827delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2829_Asp2838delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 7798,
          "referenceAllele": "",
          "start": 7798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.7783_7784insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Ser2595MetfsTer31",
        "hgvsWellDefined": "XP_011538349.1:p.[Ser2595_Asp2613delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2615_Asp2624delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 5431,
          "referenceAllele": "",
          "start": 5431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.5293_5294insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Ser1765MetfsTer31",
        "hgvsWellDefined": "XP_011538354.1:p.[Ser1765_Asp1783delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala1785_Asp1794delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "TGGCTGTA",
          "end": 9174,
          "referenceAllele": "",
          "start": 9174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.8770_8771insTGGCTGTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ser2924MetfsTer31",
        "hgvsWellDefined": "NP_071407.4:p.[Ser2924_Asp2942delinsMetAlaValAlaProAlaThrSerTrpTrpThrLeuTrpProGluThrTrpGlnAla;Ala2944_Asp2953delinsThrThrArgProSerSerAlaSerThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.8770_8771insTGGCTGTA"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.8770_8771insTGGCTGTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ser2924MetfsTer31"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ser2924MetfsTer31"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}