{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA237348",
  "communityStandardTitle": [
    "NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189934[alleleid]",
        "alleleId": 189934,
        "preferredName": "NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191713",
        "RCV": [
          "RCV000172025",
          "RCV001409841",
          "RCV002354431"
        ],
        "variationId": 191713
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-23858217-G-T",
        "id": "14-23858217-G-T",
        "variant": "14:23858217 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23858217G>T?assembly=hg19",
        "id": "chr14:g.23858217G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23389008G>T?assembly=hg38",
        "id": "chr14:g.23389008G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141062252",
        "rs": 141062252
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23858217-G-T?dataset=gnomad_r2_1",
        "id": "14-23858217-G-T",
        "variant": "14:23858217 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23389008-G-T?dataset=gnomad_r3",
        "id": "14-23389008-G-T",
        "variant": "14:23389008 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23389008-G-T?dataset=gnomad_r4",
        "id": "14-23389008-G-T",
        "variant": "14:23389008 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23389008,
          "referenceAllele": "G",
          "start": 23389007
        }
      ],
      "hgvs": [
        "NC_000014.9:g.23389008G>T",
        "CM000676.2:g.23389008G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23858217,
          "referenceAllele": "G",
          "start": 23858216
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23858217G>T",
        "CM000676.1:g.23858217G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 22928057,
          "referenceAllele": "G",
          "start": 22928056
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22928057G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24270,
          "referenceAllele": "C",
          "start": 24269
        }
      ],
      "hgvs": [
        "NG_023444.1:g.24270C>A",
        "LRG_389:g.24270C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003871"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "ENST00000405093.9:c.4026C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386041.3:p.Cys1342Ter",
        "hgvsWellDefined": "ENSP00000386041.3:p.Cys1342_Glu1939delinsAspLeuLeuArgGluGlnTyrGluGluGluThrGluAlaLysAlaGluLeuGlnArgValLeuSerLysAlaAsnSerGluValAlaGlnTrpArgThrLysTyrGluThrAspAlaIleGlnArgThrGluGluLeuGluGluAlaLysLysLysLeuAlaGlnArgLeuGlnAspAlaGluGluAlaValGluAlaValAsnAlaLysCysSerSerLeuGluLysThrLysHisArgLeuGlnAsnGluIleGluAspLeuMetValAspValGluArgSerAsnAlaAlaAlaAlaAlaLeuAspLysLysGlnArgAsnPheAspLysIleLeuAlaGluTrpLysGlnLysTyrGluGluSerGlnSerGluLeuGluSerSerGlnLysGluAlaArgSerLeuSerThrGluLeuPheLysLeuLysAsnAlaTyrGluGluSerLeuGluHisLeuGluThrPheLysArgGluAsnLysAsnLeuGlnGluGluIleSerAspLeuThrGluGlnLeuGlyGluGlyGlyLysAsnValHisGluLeuGluLysValArgLysGlnLeuGluValGluLysLeuGluLeuGlnSerAlaLeuGluGluAlaGluAlaSerLeuGluHisGluGluGlyLysIleLeuArgAlaGlnLeuGluPheAsnGlnIleLysAlaGluIleGluArgLysLeuAlaGluLysAspGluGluMetGluGlnAlaLysArgAsnHisGlnArgValValAspSerLeuGlnThrSerLeuAspAlaGluThrArgSerArgAsnGluValLeuArgValLysLysLysMetGluGlyAspLeuAsnGluMetGluIleGlnLeuSerHisAlaAsnArgMetAlaAlaGluAlaGlnLysGlnValLysSerLeuGlnSerLeuLeuLysAspThrGlnIleGlnLeuAspAspAlaValArgAlaAsnAspAspLeuLysGluAsnIleAlaIleValGluArgArgAsnAsnLeuLeuGlnAlaGluLeuGluGluLeuArgAlaValValGluGlnThrGluArgSerArgLysLeuAlaGluGlnGluLeuIleGluThrSerGluArgValGlnLeuLeuHisSerGlnAsnThrSerLeuIleAsnGlnLysLysLysMetGluSerAspLeuThrGlnLeuGlnSerGluValGluGluAlaValGlnGluCysArgAsnAlaGluGluLysAlaLysLysAlaIleThrAspAlaAlaMetMetAlaGluGluLeuLysLysGluGlnAspThrSerAlaHisLeuGluArgMetLysLysAsnMetGluGlnThrIleLysAspLeuGlnHisArgLeuAspGluAlaGluGlnIleAlaLeuLysGlyGlyLysLysGlnLeuGlnLysLeuGluAlaArgValArgGluLeuGluGlyGluLeuGluAlaGluGlnLysArgAsnAlaGluSerValLysGlyMetArgLysSerGluArgArgIleLysGluLeuThrTyrGlnThrGluGluAspLysLysAsnLeuLeuArgLeuGlnAspLeuValAspLysLeuGlnLeuLysValLysAlaTyrLysArgGlnAlaGluGluAlaGluGluGlnAlaAsnThrAsnLeuSerLysPheArgLysValGlnHisGluLeuAspGluAlaGluGluArgAlaAspIleAlaGluSerGlnValAsnLysLeuArgAlaLysSerArgAspIleGlyAlaLysGlnLysMetHisAspGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754116",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405093.9:c.4026C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002471.4:c.4026C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386041.3:p.Cys1342Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002462.2:p.Cys1342Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4056,
          "referenceAllele": "C",
          "start": 4055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "ENST00000356287.3:c.4026C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348634.3:p.Cys1342Ter",
        "hgvsWellDefined": "ENSP00000348634.3:p.Cys1342_Glu1939delinsAspLeuLeuArgGluGlnTyrGluGluGluThrGluAlaLysAlaGluLeuGlnArgValLeuSerLysAlaAsnSerGluValAlaGlnTrpArgThrLysTyrGluThrAspAlaIleGlnArgThrGluGluLeuGluGluAlaLysLysLysLeuAlaGlnArgLeuGlnAspAlaGluGluAlaValGluAlaValAsnAlaLysCysSerSerLeuGluLysThrLysHisArgLeuGlnAsnGluIleGluAspLeuMetValAspValGluArgSerAsnAlaAlaAlaAlaAlaLeuAspLysLysGlnArgAsnPheAspLysIleLeuAlaGluTrpLysGlnLysTyrGluGluSerGlnSerGluLeuGluSerSerGlnLysGluAlaArgSerLeuSerThrGluLeuPheLysLeuLysAsnAlaTyrGluGluSerLeuGluHisLeuGluThrPheLysArgGluAsnLysAsnLeuGlnGluGluIleSerAspLeuThrGluGlnLeuGlyGluGlyGlyLysAsnValHisGluLeuGluLysValArgLysGlnLeuGluValGluLysLeuGluLeuGlnSerAlaLeuGluGluAlaGluAlaSerLeuGluHisGluGluGlyLysIleLeuArgAlaGlnLeuGluPheAsnGlnIleLysAlaGluIleGluArgLysLeuAlaGluLysAspGluGluMetGluGlnAlaLysArgAsnHisGlnArgValValAspSerLeuGlnThrSerLeuAspAlaGluThrArgSerArgAsnGluValLeuArgValLysLysLysMetGluGlyAspLeuAsnGluMetGluIleGlnLeuSerHisAlaAsnArgMetAlaAlaGluAlaGlnLysGlnValLysSerLeuGlnSerLeuLeuLysAspThrGlnIleGlnLeuAspAspAlaValArgAlaAsnAspAspLeuLysGluAsnIleAlaIleValGluArgArgAsnAsnLeuLeuGlnAlaGluLeuGluGluLeuArgAlaValValGluGlnThrGluArgSerArgLysLeuAlaGluGlnGluLeuIleGluThrSerGluArgValGlnLeuLeuHisSerGlnAsnThrSerLeuIleAsnGlnLysLysLysMetGluSerAspLeuThrGlnLeuGlnSerGluValGluGluAlaValGlnGluCysArgAsnAlaGluGluLysAlaLysLysAlaIleThrAspAlaAlaMetMetAlaGluGluLeuLysLysGluGlnAspThrSerAlaHisLeuGluArgMetLysLysAsnMetGluGlnThrIleLysAspLeuGlnHisArgLeuAspGluAlaGluGlnIleAlaLeuLysGlyGlyLysLysGlnLeuGlnLysLeuGluAlaArgValArgGluLeuGluGlyGluLeuGluAlaGluGlnLysArgAsnAlaGluSerValLysGlyMetArgLysSerGluArgArgIleLysGluLeuThrTyrGlnThrGluGluAspLysLysAsnLeuLeuArgLeuGlnAspLeuValAspLysLeuGlnLeuLysValLysAlaTyrLysArgGlnAlaGluGluAlaGluGluGlnAlaAsnThrAsnLeuSerLysPheArgLysValGlnHisGluLeuAspGluAlaGluGluArgAlaAspIleAlaGluSerGlnValAsnLysLeuArgAlaLysSerArgAspIleGlyAlaLysGlnLysMetHisAspGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4097,
          "referenceAllele": "C",
          "start": 4096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "ENST00000405093.7:c.4026C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386041.3:p.Cys1342Ter",
        "hgvsWellDefined": "ENSP00000386041.3:p.Cys1342_Glu1939delinsAspLeuLeuArgGluGlnTyrGluGluGluThrGluAlaLysAlaGluLeuGlnArgValLeuSerLysAlaAsnSerGluValAlaGlnTrpArgThrLysTyrGluThrAspAlaIleGlnArgThrGluGluLeuGluGluAlaLysLysLysLeuAlaGlnArgLeuGlnAspAlaGluGluAlaValGluAlaValAsnAlaLysCysSerSerLeuGluLysThrLysHisArgLeuGlnAsnGluIleGluAspLeuMetValAspValGluArgSerAsnAlaAlaAlaAlaAlaLeuAspLysLysGlnArgAsnPheAspLysIleLeuAlaGluTrpLysGlnLysTyrGluGluSerGlnSerGluLeuGluSerSerGlnLysGluAlaArgSerLeuSerThrGluLeuPheLysLeuLysAsnAlaTyrGluGluSerLeuGluHisLeuGluThrPheLysArgGluAsnLysAsnLeuGlnGluGluIleSerAspLeuThrGluGlnLeuGlyGluGlyGlyLysAsnValHisGluLeuGluLysValArgLysGlnLeuGluValGluLysLeuGluLeuGlnSerAlaLeuGluGluAlaGluAlaSerLeuGluHisGluGluGlyLysIleLeuArgAlaGlnLeuGluPheAsnGlnIleLysAlaGluIleGluArgLysLeuAlaGluLysAspGluGluMetGluGlnAlaLysArgAsnHisGlnArgValValAspSerLeuGlnThrSerLeuAspAlaGluThrArgSerArgAsnGluValLeuArgValLysLysLysMetGluGlyAspLeuAsnGluMetGluIleGlnLeuSerHisAlaAsnArgMetAlaAlaGluAlaGlnLysGlnValLysSerLeuGlnSerLeuLeuLysAspThrGlnIleGlnLeuAspAspAlaValArgAlaAsnAspAspLeuLysGluAsnIleAlaIleValGluArgArgAsnAsnLeuLeuGlnAlaGluLeuGluGluLeuArgAlaValValGluGlnThrGluArgSerArgLysLeuAlaGluGlnGluLeuIleGluThrSerGluArgValGlnLeuLeuHisSerGlnAsnThrSerLeuIleAsnGlnLysLysLysMetGluSerAspLeuThrGlnLeuGlnSerGluValGluGluAlaValGlnGluCysArgAsnAlaGluGluLysAlaLysLysAlaIleThrAspAlaAlaMetMetAlaGluGluLeuLysLysGluGlnAspThrSerAlaHisLeuGluArgMetLysLysAsnMetGluGlnThrIleLysAspLeuGlnHisArgLeuAspGluAlaGluGlnIleAlaLeuLysGlyGlyLysLysGlnLeuGlnLysLeuGluAlaArgValArgGluLeuGluGlyGluLeuGluAlaGluGlnLysArgAsnAlaGluSerValLysGlyMetArgLysSerGluArgArgIleLysGluLeuThrTyrGlnThrGluGluAspLysLysAsnLeuLeuArgLeuGlnAspLeuValAspLysLeuGlnLeuLysValLysAlaTyrLysArgGlnAlaGluGluAlaGluGluGlnAlaAsnThrAsnLeuSerLysPheArgLysValGlnHisGluLeuAspGluAlaGluGluArgAlaAspIleAlaGluSerGlnValAsnLysLeuArgAlaLysSerArgAspIleGlyAlaLysGlnLysMetHisAspGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA237350",
      "coordinates": [
        {
          "allele": "A",
          "end": 4097,
          "referenceAllele": "C",
          "start": 4096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NM_002471.3:c.4026C>A",
        "LRG_389t1:c.4026C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002462.2:p.Cys1342Ter",
        "hgvsWellDefined": "NP_002462.2:p.Cys1342_Glu1939delinsAspLeuLeuArgGluGlnTyrGluGluGluThrGluAlaLysAlaGluLeuGlnArgValLeuSerLysAlaAsnSerGluValAlaGlnTrpArgThrLysTyrGluThrAspAlaIleGlnArgThrGluGluLeuGluGluAlaLysLysLysLeuAlaGlnArgLeuGlnAspAlaGluGluAlaValGluAlaValAsnAlaLysCysSerSerLeuGluLysThrLysHisArgLeuGlnAsnGluIleGluAspLeuMetValAspValGluArgSerAsnAlaAlaAlaAlaAlaLeuAspLysLysGlnArgAsnPheAspLysIleLeuAlaGluTrpLysGlnLysTyrGluGluSerGlnSerGluLeuGluSerSerGlnLysGluAlaArgSerLeuSerThrGluLeuPheLysLeuLysAsnAlaTyrGluGluSerLeuGluHisLeuGluThrPheLysArgGluAsnLysAsnLeuGlnGluGluIleSerAspLeuThrGluGlnLeuGlyGluGlyGlyLysAsnValHisGluLeuGluLysValArgLysGlnLeuGluValGluLysLeuGluLeuGlnSerAlaLeuGluGluAlaGluAlaSerLeuGluHisGluGluGlyLysIleLeuArgAlaGlnLeuGluPheAsnGlnIleLysAlaGluIleGluArgLysLeuAlaGluLysAspGluGluMetGluGlnAlaLysArgAsnHisGlnArgValValAspSerLeuGlnThrSerLeuAspAlaGluThrArgSerArgAsnGluValLeuArgValLysLysLysMetGluGlyAspLeuAsnGluMetGluIleGlnLeuSerHisAlaAsnArgMetAlaAlaGluAlaGlnLysGlnValLysSerLeuGlnSerLeuLeuLysAspThrGlnIleGlnLeuAspAspAlaValArgAlaAsnAspAspLeuLysGluAsnIleAlaIleValGluArgArgAsnAsnLeuLeuGlnAlaGluLeuGluGluLeuArgAlaValValGluGlnThrGluArgSerArgLysLeuAlaGluGlnGluLeuIleGluThrSerGluArgValGlnLeuLeuHisSerGlnAsnThrSerLeuIleAsnGlnLysLysLysMetGluSerAspLeuThrGlnLeuGlnSerGluValGluGluAlaValGlnGluCysArgAsnAlaGluGluLysAlaLysLysAlaIleThrAspAlaAlaMetMetAlaGluGluLeuLysLysGluGlnAspThrSerAlaHisLeuGluArgMetLysLysAsnMetGluGlnThrIleLysAspLeuGlnHisArgLeuAspGluAlaGluGlnIleAlaLeuLysGlyGlyLysLysGlnLeuGlnLysLeuGluAlaArgValArgGluLeuGluGlyGluLeuGluAlaGluGlnLysArgAsnAlaGluSerValLysGlyMetArgLysSerGluArgArgIleLysGluLeuThrTyrGlnThrGluGluAspLysLysAsnLeuLeuArgLeuGlnAspLeuValAspLysLeuGlnLeuLysValLysAlaTyrLysArgGlnAlaGluGluAlaGluGluGlnAlaAsnThrAsnLeuSerLysPheArgLysValGlnHisGluLeuAspGluAlaGluGluArgAlaAspIleAlaGluSerGlnValAsnLysLeuArgAlaLysSerArgAspIleGlyAlaLysGlnLysMetHisAspGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA237350",
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NM_002471.4:c.4026C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002462.2:p.Cys1342Ter",
        "hgvsWellDefined": "NP_002462.2:p.Cys1342_Glu1939delinsAspLeuLeuArgGluGlnTyrGluGluGluThrGluAlaLysAlaGluLeuGlnArgValLeuSerLysAlaAsnSerGluValAlaGlnTrpArgThrLysTyrGluThrAspAlaIleGlnArgThrGluGluLeuGluGluAlaLysLysLysLeuAlaGlnArgLeuGlnAspAlaGluGluAlaValGluAlaValAsnAlaLysCysSerSerLeuGluLysThrLysHisArgLeuGlnAsnGluIleGluAspLeuMetValAspValGluArgSerAsnAlaAlaAlaAlaAlaLeuAspLysLysGlnArgAsnPheAspLysIleLeuAlaGluTrpLysGlnLysTyrGluGluSerGlnSerGluLeuGluSerSerGlnLysGluAlaArgSerLeuSerThrGluLeuPheLysLeuLysAsnAlaTyrGluGluSerLeuGluHisLeuGluThrPheLysArgGluAsnLysAsnLeuGlnGluGluIleSerAspLeuThrGluGlnLeuGlyGluGlyGlyLysAsnValHisGluLeuGluLysValArgLysGlnLeuGluValGluLysLeuGluLeuGlnSerAlaLeuGluGluAlaGluAlaSerLeuGluHisGluGluGlyLysIleLeuArgAlaGlnLeuGluPheAsnGlnIleLysAlaGluIleGluArgLysLeuAlaGluLysAspGluGluMetGluGlnAlaLysArgAsnHisGlnArgValValAspSerLeuGlnThrSerLeuAspAlaGluThrArgSerArgAsnGluValLeuArgValLysLysLysMetGluGlyAspLeuAsnGluMetGluIleGlnLeuSerHisAlaAsnArgMetAlaAlaGluAlaGlnLysGlnValLysSerLeuGlnSerLeuLeuLysAspThrGlnIleGlnLeuAspAspAlaValArgAlaAsnAspAspLeuLysGluAsnIleAlaIleValGluArgArgAsnAsnLeuLeuGlnAlaGluLeuGluGluLeuArgAlaValValGluGlnThrGluArgSerArgLysLeuAlaGluGlnGluLeuIleGluThrSerGluArgValGlnLeuLeuHisSerGlnAsnThrSerLeuIleAsnGlnLysLysLysMetGluSerAspLeuThrGlnLeuGlnSerGluValGluGluAlaValGlnGluCysArgAsnAlaGluGluLysAlaLysLysAlaIleThrAspAlaAlaMetMetAlaGluGluLeuLysLysGluGlnAspThrSerAlaHisLeuGluArgMetLysLysAsnMetGluGlnThrIleLysAspLeuGlnHisArgLeuAspGluAlaGluGlnIleAlaLeuLysGlyGlyLysLysGlnLeuGlnLysLeuGluAlaArgValArgGluLeuGluGlyGluLeuGluAlaGluGlnLysArgAsnAlaGluSerValLysGlyMetArgLysSerGluArgArgIleLysGluLeuThrTyrGlnThrGluGluAspLysLysAsnLeuLeuArgLeuGlnAspLeuValAspLysLeuGlnLeuLysValLysAlaTyrLysArgGlnAlaGluGluAlaGluGluGlnAlaAsnThrAsnLeuSerLysPheArgLysValGlnHisGluLeuAspGluAlaGluGluArgAlaAspIleAlaGluSerGlnValAsnLysLeuArgAlaLysSerArgAspIleGlyAlaLysGlnLysMetHisAspGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405093.9:c.4026C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002471.4:c.4026C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386041.3:p.Cys1342Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002462.2:p.Cys1342Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}