{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355317434",
  "communityStandardTitle": [
    "NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832753[alleleid]",
        "alleleId": 2832753,
        "preferredName": "NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676455",
        "RCV": [
          "RCV003470060"
        ],
        "variationId": 2676455
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.182743545G>A?assembly=hg19",
        "id": "chr3:g.182743545G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.183025757G>A?assembly=hg38",
        "id": "chr3:g.183025757G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1486131108",
        "rs": 1486131108
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 183025757,
          "referenceAllele": "G",
          "start": 183025756
        }
      ],
      "hgvs": [
        "NC_000003.12:g.183025757G>A",
        "CM000665.2:g.183025757G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 182743545,
          "referenceAllele": "G",
          "start": 182743544
        }
      ],
      "hgvs": [
        "NC_000003.11:g.182743545G>A",
        "CM000665.1:g.182743545G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 184226239,
          "referenceAllele": "G",
          "start": 184226238
        }
      ],
      "hgvs": [
        "NC_000003.10:g.184226239G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78821,
          "referenceAllele": "C",
          "start": 78820
        }
      ],
      "hgvs": [
        "NG_008100.1:g.78821C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000845"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.9:c.1729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Gln577Ter",
        "hgvsWellDefined": "ENSP00000265594.4:p.Gln577_Glu725delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1729C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1729C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Gln577Ter"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Gln577Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.8:c.1729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Gln577Ter",
        "hgvsWellDefined": "ENSP00000265594.4:p.Gln577_Glu725delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000476176.5:c.1588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420433.1:p.Gln530Ter",
        "hgvsWellDefined": "ENSP00000420433.1:p.Gln530Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000489909.1:n.370C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "C",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000492597.5:c.1402C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419898.1:p.Gln468Ter",
        "hgvsWellDefined": "ENSP00000419898.1:p.Gln468_Glu616delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "endIntronDirection": "-",
          "endIntronOffset": 3202,
          "referenceAllele": "C",
          "start": 1526,
          "startIntronDirection": "-",
          "startIntronOffset": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000495767.5:c.*1263-3203C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419658.1:n.*1263-3203C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1560,
          "referenceAllele": "C",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497830.5:c.*1326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420088.1:n.*1326C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497959.5:c.*190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420648.1:n.*190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000539926.5:c.1279C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441253.2:p.Gln427Ter",
        "hgvsWellDefined": "ENSP00000441253.2:p.Gln427_Glu575delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000610757.4:c.1279C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480435.1:p.Gln427Ter",
        "hgvsWellDefined": "ENSP00000480435.1:p.Gln427_Glu575delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1649,
          "referenceAllele": "C",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000629669.2:c.*93C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486824.1:n.*93C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831545",
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.1:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Gln460Ter",
        "hgvsWellDefined": "NP_001280202.1:p.Gln460_Glu608delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741967503",
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.4:c.1729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Gln577Ter",
        "hgvsWellDefined": "NP_064551.3:p.Gln577_Glu725delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "endIntronDirection": "-",
          "endIntronOffset": 3202,
          "referenceAllele": "C",
          "start": 1595,
          "startIntronDirection": "-",
          "startIntronOffset": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.1:n.1596-3203C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.1:n.2276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "referenceAllele": "C",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_006713702.1:c.1402C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713765.1:p.Gln468Ter",
        "hgvsWellDefined": "XP_006713765.1:p.Gln468_Glu616delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.1:c.1615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Gln539Ter",
        "hgvsWellDefined": "XP_011511294.1:p.Gln539_Glu687delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.2:n.1659C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_924159.1:n.1973C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828125876",
      "coordinates": [
        {
          "allele": "T",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001363880.1:c.1402C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350809.1:p.Gln468Ter",
        "hgvsWellDefined": "NP_001350809.1:p.Gln468_Glu616delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2474,
          "referenceAllele": "C",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.2:c.1615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Gln539Ter",
        "hgvsWellDefined": "XP_011511294.1:p.Gln539_Glu687delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740207.2:n.1949C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1804,
          "endIntronDirection": "-",
          "endIntronOffset": 3202,
          "referenceAllele": "C",
          "start": 1804,
          "startIntronDirection": "-",
          "startIntronOffset": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740208.2:n.1805-3203C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "endIntronDirection": "-",
          "endIntronOffset": 3202,
          "referenceAllele": "C",
          "start": 1557,
          "startIntronDirection": "-",
          "startIntronOffset": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740209.2:n.1558-3203C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "endIntronDirection": "-",
          "endIntronOffset": 3202,
          "referenceAllele": "C",
          "start": 1634,
          "startIntronDirection": "-",
          "startIntronOffset": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740210.1:n.1635-3203C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1732,
          "referenceAllele": "C",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959554.1:n.1732C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.3:n.1605C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741967503",
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.5:c.1729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Gln577Ter",
        "hgvsWellDefined": "NP_064551.3:p.Gln577_Glu725delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1729C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1729C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Gln577Ter"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Gln577Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831545",
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.2:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Gln460Ter",
        "hgvsWellDefined": "NP_001280202.1:p.Gln460_Glu608delinsIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "endIntronDirection": "-",
          "endIntronOffset": 3202,
          "referenceAllele": "C",
          "start": 1504,
          "startIntronDirection": "-",
          "startIntronOffset": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.2:n.1505-3203C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.2:n.2276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730742"
    }
  ],
  "type": "nucleotide"
}