{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285421707",
  "communityStandardTitle": [
    "NM_012213.3(MLYCD):c.493C>T (p.Gln165Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3175047[alleleid]",
        "alleleId": 3175047,
        "preferredName": "NM_012213.3(MLYCD):c.493C>T (p.Gln165Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3017380",
        "RCV": [
          "RCV003871499"
        ],
        "variationId": 3017380
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.83933242C>T?assembly=hg19",
        "id": "chr16:g.83933242C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.83899637C>T?assembly=hg38",
        "id": "chr16:g.83899637C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768903353",
        "rs": 768903353
      }
    ],
    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/16-83933242-C-T?dataset=gnomad_r2_1",
        "id": "16-83933242-C-T",
        "variant": "16:83933242 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-83899637-C-T?dataset=gnomad_r3",
        "id": "16-83899637-C-T",
        "variant": "16:83899637 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-83899637-C-T?dataset=gnomad_r4",
        "id": "16-83899637-C-T",
        "variant": "16:83899637 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 83899637,
          "referenceAllele": "C",
          "start": 83899636
        }
      ],
      "hgvs": [
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        "CM000678.2:g.83899637C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 83933242,
          "referenceAllele": "C",
          "start": 83933241
        }
      ],
      "hgvs": [
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        "CM000678.1:g.83933242C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 82490743,
          "referenceAllele": "C",
          "start": 82490742
        }
      ],
      "hgvs": [
        "NC_000016.8:g.82490743C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5513,
          "referenceAllele": "C",
          "start": 5512
        }
      ],
      "hgvs": [
        "NG_009079.1:g.5513C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001415"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007150",
      "geneNCBI_id": 23417,
      "geneSymbol": "MLYCD",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000262430.4:p.Gln165_Leu493delinsAlaLeuLysLeuValGluGlyProAspValArgGluMetAsnGlyValLeuLysGlyMetLeuSerGluTrpPheSerSerGlyPheLeuAsnLeuGluArgValThrTrpHisSerProCysGluValLeuGlnLysIleSerGluAlaGluAlaValHisProValLysAsnTrpMetAspMetLysArgArgValGlyProTyrArgArgCysTyrPhePheSerHisCysSerThrProGlyGluProLeuValValLeuHisValAlaLeuThrGlyAspIleSerSerAsnIleGlnAlaIleValLysGluHisProProSerGluThrGluGluLysAsnLysIleThrAlaAlaIlePheTyrSerIleSerLeuThrGlnGlnGlyLeuGlnGlyValGluLeuGlyThrPheLeuIleLysArgValValLysGluLeuGlnArgGluPheProHisLeuGlyValPheSerSerLeuSerProIleProGlyPheThrLysTrpLeuLeuGlyLeuLeuAsnSerGlnThrLysGluHisGlyArgAsnGluLeuPheThrAspSerGluCysLysGluIleSerGluIleThrGlyGlyProIleAsnGluThrLeuLysLeuLeuLeuSerSerSerGluTrpValGlnSerGluLysLeuValArgAlaLeuGlnThrProLeuMetArgLeuCysAlaTrpTyrLeuTyrGlyGluLysHisArgGlyTyrAlaLeuAsnProValAlaAsnPheHisLeuGlnAsnGlyAlaValLeuTrpArgIleAsnTrpMetAlaAspValSerLeuArgGlyIleThrGlySerCysGlyLeuMetAlaAsnTyrArgTyrPheLeuGluGluThrGlyProAsnSerThrSerTyrLeuGlySerLysIleIleLysAlaSerGluGlnValLeuSerLeuValAlaGlnPheGlnLysAsnSerLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_012213.3:c.493C>T"
          }
        },
        "protein": {
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          },
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          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007150",
      "geneNCBI_id": 23417,
      "geneSymbol": "MLYCD",
      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741938126",
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007150",
      "geneNCBI_id": 23417,
      "geneSymbol": "MLYCD",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_036345.2:p.Gln165Ter",
        "hgvsWellDefined": "NP_036345.2:p.Gln165_Leu493delinsAlaLeuLysLeuValGluGlyProAspValArgGluMetAsnGlyValLeuLysGlyMetLeuSerGluTrpPheSerSerGlyPheLeuAsnLeuGluArgValThrTrpHisSerProCysGluValLeuGlnLysIleSerGluAlaGluAlaValHisProValLysAsnTrpMetAspMetLysArgArgValGlyProTyrArgArgCysTyrPhePheSerHisCysSerThrProGlyGluProLeuValValLeuHisValAlaLeuThrGlyAspIleSerSerAsnIleGlnAlaIleValLysGluHisProProSerGluThrGluGluLysAsnLysIleThrAlaAlaIlePheTyrSerIleSerLeuThrGlnGlnGlyLeuGlnGlyValGluLeuGlyThrPheLeuIleLysArgValValLysGluLeuGlnArgGluPheProHisLeuGlyValPheSerSerLeuSerProIleProGlyPheThrLysTrpLeuLeuGlyLeuLeuAsnSerGlnThrLysGluHisGlyArgAsnGluLeuPheThrAspSerGluCysLysGluIleSerGluIleThrGlyGlyProIleAsnGluThrLeuLysLeuLeuLeuSerSerSerGluTrpValGlnSerGluLysLeuValArgAlaLeuGlnThrProLeuMetArgLeuCysAlaTrpTyrLeuTyrGlyGluLysHisArgGlyTyrAlaLeuAsnProValAlaAsnPheHisLeuGlnAsnGlyAlaValLeuTrpArgIleAsnTrpMetAlaAspValSerLeuArgGlyIleThrGlySerCysGlyLeuMetAlaAsnTyrArgTyrPheLeuGluGluThrGlyProAsnSerThrSerTyrLeuGlySerLysIleIleLysAlaSerGluGlnValLeuSerLeuValAlaGlnPheGlnLysAsnSerLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741938126",
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007150",
      "geneNCBI_id": 23417,
      "geneSymbol": "MLYCD",
      "hgvs": [
        "NM_012213.3:c.493C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036345.2:p.Gln165Ter",
        "hgvsWellDefined": "NP_036345.2:p.Gln165_Leu493delinsAlaLeuLysLeuValGluGlyProAspValArgGluMetAsnGlyValLeuLysGlyMetLeuSerGluTrpPheSerSerGlyPheLeuAsnLeuGluArgValThrTrpHisSerProCysGluValLeuGlnLysIleSerGluAlaGluAlaValHisProValLysAsnTrpMetAspMetLysArgArgValGlyProTyrArgArgCysTyrPhePheSerHisCysSerThrProGlyGluProLeuValValLeuHisValAlaLeuThrGlyAspIleSerSerAsnIleGlnAlaIleValLysGluHisProProSerGluThrGluGluLysAsnLysIleThrAlaAlaIlePheTyrSerIleSerLeuThrGlnGlnGlyLeuGlnGlyValGluLeuGlyThrPheLeuIleLysArgValValLysGluLeuGlnArgGluPheProHisLeuGlyValPheSerSerLeuSerProIleProGlyPheThrLysTrpLeuLeuGlyLeuLeuAsnSerGlnThrLysGluHisGlyArgAsnGluLeuPheThrAspSerGluCysLysGluIleSerGluIleThrGlyGlyProIleAsnGluThrLeuLysLeuLeuLeuSerSerSerGluTrpValGlnSerGluLysLeuValArgAlaLeuGlnThrProLeuMetArgLeuCysAlaTrpTyrLeuTyrGlyGluLysHisArgGlyTyrAlaLeuAsnProValAlaAsnPheHisLeuGlnAsnGlyAlaValLeuTrpArgIleAsnTrpMetAlaAspValSerLeuArgGlyIleThrGlySerCysGlyLeuMetAlaAsnTyrArgTyrPheLeuGluGluThrGlyProAsnSerThrSerTyrLeuGlySerLysIleIleLysAlaSerGluGlnValLeuSerLeuValAlaGlnPheGlnLysAsnSerLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667947",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262430.6:c.493C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012213.3:c.493C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262430.4:p.Gln165Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036345.2:p.Gln165Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}