{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278625482",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426823[alleleid]",
        "alleleId": 426823,
        "preferredName": "NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433339",
        "RCV": [
          "RCV000499290",
          "RCV002298628",
          "RCV001857049"
        ],
        "variationId": 433339
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16248800C>T?assembly=hg19",
        "id": "chr16:g.16248800C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16154943C>T?assembly=hg38",
        "id": "chr16:g.16154943C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72653750",
        "rs": 72653750
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16154943-C-T?dataset=gnomad_r3",
        "id": "16-16154943-C-T",
        "variant": "16:16154943 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16154943-C-T?dataset=gnomad_r4",
        "id": "16-16154943-C-T",
        "variant": "16:16154943 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16154943,
          "referenceAllele": "C",
          "start": 16154942
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16154943C>T",
        "CM000678.2:g.16154943C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16248800,
          "referenceAllele": "C",
          "start": 16248799
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16248800C>T",
        "CM000678.1:g.16248800C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16156301,
          "referenceAllele": "C",
          "start": 16156300
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16156301C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73529,
          "referenceAllele": "G",
          "start": 73528
        }
      ],
      "hgvs": [
        "NG_007558.2:g.73529G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73675,
          "referenceAllele": "G",
          "start": 73674
        }
      ],
      "hgvs": [
        "NG_007558.3:g.73675G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.6:n.834G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4094,
          "referenceAllele": "G",
          "start": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.*143G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:n.*143G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.3971G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Trp1324Ter",
        "hgvsWellDefined": "ENSP00000205557.7:p.Trp1324_Val1503delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3971G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3971G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Trp1324Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Trp1324Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.785G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:p.Trp262Ter",
        "hgvsWellDefined": "ENSP00000492197.1:p.Trp262_Val441delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4001,
          "referenceAllele": "G",
          "start": 4000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.3971G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Trp1324Ter",
        "hgvsWellDefined": "ENSP00000205557.7:p.Trp1324_Val1503delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3596,
          "referenceAllele": "G",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.3596G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.5:n.834G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3833,
          "referenceAllele": "G",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*1180G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443484",
      "coordinates": [
        {
          "allele": "A",
          "end": 4008,
          "referenceAllele": "G",
          "start": 4007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.3971G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Trp1324Ter",
        "hgvsWellDefined": "NP_001162.4:p.Trp1324_Val1503delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4168,
          "referenceAllele": "G",
          "start": 4167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.3938G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Trp1313Ter",
        "hgvsWellDefined": "XP_011520781.1:p.Trp1313_Val1492delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3956,
          "referenceAllele": "G",
          "start": 3955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.3629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Trp1210Ter",
        "hgvsWellDefined": "XP_011520782.1:p.Trp1210_Val1389delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4141,
          "referenceAllele": "G",
          "start": 4140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.3629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Trp1210Ter",
        "hgvsWellDefined": "XP_011520783.1:p.Trp1210_Val1389delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 4837,
          "referenceAllele": "C",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 4838
        }
      ],
      "hgvs": [
        "XR_933134.1:n.539-4838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827627592",
      "coordinates": [
        {
          "allele": "A",
          "end": 4039,
          "referenceAllele": "G",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.3629G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Trp1210Ter",
        "hgvsWellDefined": "NP_001338729.1:p.Trp1210_Val1389delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3633,
          "referenceAllele": "G",
          "start": 3632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3633G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4119,
          "referenceAllele": "G",
          "start": 4118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.3938G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Trp1313Ter",
        "hgvsWellDefined": "XP_011520781.1:p.Trp1313_Val1492delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4154,
          "referenceAllele": "G",
          "start": 4153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.3629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Trp1210Ter",
        "hgvsWellDefined": "XP_011520783.1:p.Trp1210_Val1389delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3984,
          "referenceAllele": "G",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.3803G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Trp1268Ter",
        "hgvsWellDefined": "XP_016878701.1:p.Trp1268_Val1447delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4190,
          "referenceAllele": "G",
          "start": 4189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.4007G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Trp1336Ter",
        "hgvsWellDefined": "XP_024306029.1:p.Trp1336_Val1515delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.3952G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066739",
      "coordinates": [
        {
          "allele": "A",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.3971G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Trp1324Ter",
        "hgvsWellDefined": "NP_001162.5:p.Trp1324_Val1503delinsIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3971G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3971G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Trp1324Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Trp1324Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}