{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129124",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2127498",
        "active": true,
        "id": "COSM2127498"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39295[alleleid]",
        "alleleId": 39295,
        "preferredName": "NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30339",
        "RCV": [
          "RCV000023279",
          "RCV000023280",
          "RCV000191057",
          "RCV000429924",
          "RCV002477007",
          "RCV004528132"
        ],
        "variationId": 30339
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-16284104-G-A",
        "id": "16-16284104-G-A",
        "variant": "16:16284104 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16284104G>A?assembly=hg19",
        "id": "chr16:g.16284104G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16190247G>A?assembly=hg38",
        "id": "chr16:g.16190247G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72650700",
        "rs": 72650700
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16284104-G-A?dataset=gnomad_r2_1",
        "id": "16-16284104-G-A",
        "variant": "16:16284104 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16190247-G-A?dataset=gnomad_r3",
        "id": "16-16190247-G-A",
        "variant": "16:16190247 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16190247-G-A?dataset=gnomad_r4",
        "id": "16-16190247-G-A",
        "variant": "16:16190247 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16190247,
          "referenceAllele": "G",
          "start": 16190246
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16190247G>A",
        "CM000678.2:g.16190247G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16284104,
          "referenceAllele": "G",
          "start": 16284103
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16284104G>A",
        "CM000678.1:g.16284104G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16191605,
          "referenceAllele": "G",
          "start": 16191604
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16191605G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38225,
          "referenceAllele": "C",
          "start": 38224
        }
      ],
      "hgvs": [
        "NG_007558.2:g.38225C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38371,
          "referenceAllele": "C",
          "start": 38370
        }
      ],
      "hgvs": [
        "NG_007558.3:g.38371C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Arg518Ter",
        "hgvsWellDefined": "ENSP00000483331.2:p.Arg518_Gly1296delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Arg518Ter",
        "hgvsWellDefined": "ENSP00000205557.7:p.Arg518_Val1503delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1552C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1552C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Arg518Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Arg518Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Arg518Ter",
        "hgvsWellDefined": "ENSP00000205557.7:p.Arg518_Val1503delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:p.Arg518Ter",
        "hgvsWellDefined": "ENSP00000405002.2:p.Arg518_Gly871delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrLysGlnAsnLeuGlyProAlaProArgThrProGluAlaProLeuGlnAlaGlyGlyProSerLeuAspAlaArgGlyProSerSerGlnSerLeuArgArgThrValProLeuGlnLysProArgGlnArgPheLeuTrpMetThrLeuThrGlyGlnAspGlyGlnGlnGluArgThrAlaSerAsnThrAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000574094.5:n.1648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:p.Arg518Ter",
        "hgvsWellDefined": "ENSP00000483331.1:p.Arg518_Gly871delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrLysGlnAsnLeuGlyProAlaProArgThrProGluAlaProLeuGlnAlaGlyGlyProSerLeuAspAlaArgGlyProSerSerGlnSerLeuArgArgThrValProLeuGlnLysProArgGlnArgPheLeuTrpMetThrLeuThrGlyGlnAspGlyGlnGlnGluArgThrAlaSerAsnThrAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129125",
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Arg518Ter",
        "hgvsWellDefined": "NP_001162.4:p.Arg518_Val1503delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuValCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "C",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Arg518Ter",
        "hgvsWellDefined": "XP_011520781.1:p.Arg518_Val1492delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Arg404Ter",
        "hgvsWellDefined": "XP_011520782.1:p.Arg404_Val1389delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Arg404Ter",
        "hgvsWellDefined": "XP_011520783.1:p.Arg404_Val1389delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.1:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Arg518Ter",
        "hgvsWellDefined": "XP_011520784.1:p.Arg518_Ala887delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGlyThrArgAsnArgThrTrpAspGlnHisGlnGlyProGlnArgHisLeuCysArgGlnGluAlaArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.1787C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.1788C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.1788C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827626986",
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Arg404Ter",
        "hgvsWellDefined": "NP_001338729.1:p.Arg404_Val1389delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuValCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.1589C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Arg518Ter",
        "hgvsWellDefined": "XP_011520781.1:p.Arg518_Val1492delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Arg404Ter",
        "hgvsWellDefined": "XP_011520783.1:p.Arg404_Val1389delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1731,
          "referenceAllele": "C",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.3:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Arg518Ter",
        "hgvsWellDefined": "XP_011520784.1:p.Arg518_Ala887delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGlyThrArgAsnArgThrTrpAspGlnHisGlnGlyProGlnArgHisLeuCysArgGlnGluAlaArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Arg518Ter",
        "hgvsWellDefined": "XP_016878701.1:p.Arg518_Val1447delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:p.Arg518Ter",
        "hgvsWellDefined": "XP_016878703.1:p.Arg518_Cys1166delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnValAlaCysGlyGlnCysGlyAlaProGlyGluTrpProGlyValCysSerCysHisValCysCysAlaGluGlnSerProProGlnCysTrpProArgGlyLeuLeuCysLeuCysCysProProGlyThrProHisIleProLysLeuGlyLeuArgAspArgGlnArgGlnArgLeuSerAspProCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
          "referenceAllele": "C",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.1588C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Arg530Ter",
        "hgvsWellDefined": "XP_024306029.1:p.Arg530_Val1515delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.1733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.1733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.1733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066556",
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.1552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Arg518Ter",
        "hgvsWellDefined": "NP_001162.5:p.Arg518_Val1503delinsGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1552C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1552C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Arg518Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Arg518Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}