{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3021844",
  "communityStandardTitle": [
    "NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971854[alleleid]",
        "alleleId": 971854,
        "preferredName": "NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984259",
        "RCV": [
          "RCV001264269",
          "RCV003770376"
        ],
        "variationId": 984259
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-100510806-G-T",
        "id": "4-100510806-G-T",
        "variant": "4:100510806 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.100510806G>T?assembly=hg19",
        "id": "chr4:g.100510806G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.99589649G>T?assembly=hg38",
        "id": "chr4:g.99589649G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760855321",
        "rs": 760855321
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99589649-G-T?dataset=gnomad_r3",
        "id": "4-99589649-G-T",
        "variant": "4:99589649 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99589649-G-T?dataset=gnomad_r4",
        "id": "4-99589649-G-T",
        "variant": "4:99589649 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 99589649,
          "referenceAllele": "G",
          "start": 99589648
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99589649G>T",
        "CM000666.2:g.99589649G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 100510806,
          "referenceAllele": "G",
          "start": 100510805
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100510806G>T",
        "CM000666.1:g.100510806G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 100729829,
          "referenceAllele": "G",
          "start": 100729828
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100729829G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30567,
          "referenceAllele": "G",
          "start": 30566
        }
      ],
      "hgvs": [
        "NG_011469.1:g.30567G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.10:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Glu134Ter",
        "hgvsWellDefined": "ENSP00000265517.5:p.Glu134_Phe894delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.400G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.400G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Glu134Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Glu134Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.6:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Glu134Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Glu134_Phe894delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.6:c.151G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.2:p.Glu51Ter",
        "hgvsWellDefined": "ENSP00000427679.2:p.Glu51_Phe811delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.9:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Glu134Ter",
        "hgvsWellDefined": "ENSP00000265517.5:p.Glu134_Phe894delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.5:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Glu134Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Glu134_Phe894delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000506883.5:c.430G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426755.1:p.Glu144Ter",
        "hgvsWellDefined": "ENSP00000426755.1:p.Glu144Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.5:c.481G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.1:p.Glu161Ter",
        "hgvsWellDefined": "ENSP00000427679.1:p.Glu161_Phe921delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000619629.1:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482850.1:p.Glu134Ter",
        "hgvsWellDefined": "ENSP00000482850.1:p.Glu134_Asn516delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuPheHisAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077141",
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.3:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Glu134Ter",
        "hgvsWellDefined": "NP_000244.2:p.Glu134_Phe894delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.1:c.481G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.1:p.Glu161Ter",
        "hgvsWellDefined": "NP_001287714.1:p.Glu161_Phe921delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077141",
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.4:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Glu134Ter",
        "hgvsWellDefined": "NP_000244.2:p.Glu134_Phe894delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139699491",
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.2:c.151G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.2:p.Glu51Ter",
        "hgvsWellDefined": "NP_001287714.2:p.Glu51_Phe811delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829070077",
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001386140.1:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373069.1:p.Glu134Ter",
        "hgvsWellDefined": "NP_001373069.1:p.Glu134_Phe894delinsPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.400G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.400G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Glu134Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Glu134Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}