{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357502184",
  "communityStandardTitle": [
    "NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=621179[alleleid]",
        "alleleId": 621179,
        "preferredName": "NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/633321",
        "RCV": [
          "RCV000781607",
          "RCV000815577"
        ],
        "variationId": 633321
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.100504588A>T?assembly=hg19",
        "id": "chr4:g.100504588A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.99583431A>T?assembly=hg38",
        "id": "chr4:g.99583431A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1560614646",
        "rs": 1560614646
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 99583431,
          "referenceAllele": "A",
          "start": 99583430
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99583431A>T",
        "CM000666.2:g.99583431A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 100504588,
          "referenceAllele": "A",
          "start": 100504587
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100504588A>T",
        "CM000666.1:g.100504588A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 100723611,
          "referenceAllele": "A",
          "start": 100723610
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100723611A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24349,
          "referenceAllele": "A",
          "start": 24348
        }
      ],
      "hgvs": [
        "NG_011469.1:g.24349A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.10:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Lys103Ter",
        "hgvsWellDefined": "ENSP00000265517.5:p.Lys103_Phe894delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.307A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.307A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Lys103Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Lys103Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.6:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Lys103Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Lys103_Phe894delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.6:c.58A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.2:p.Lys20Ter",
        "hgvsWellDefined": "ENSP00000427679.2:p.Lys20_Phe811delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.9:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Lys103Ter",
        "hgvsWellDefined": "ENSP00000265517.5:p.Lys103_Phe894delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000422897.6:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407350.2:p.Lys103Ter",
        "hgvsWellDefined": "ENSP00000407350.2:p.Lys103_Gln151delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGlyArgLeuAspSerThrThrPheSerProThrSerTyrPheSerSerLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "A",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.5:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Lys103Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Lys103_Phe894delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "A",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000506883.5:c.337A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426755.1:p.Lys113Ter",
        "hgvsWellDefined": "ENSP00000426755.1:p.Lys113Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.5:c.388A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.1:p.Lys130Ter",
        "hgvsWellDefined": "ENSP00000427679.1:p.Lys130_Phe921delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000515141.5:c.*370A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425642.1:n.*370A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000619629.1:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482850.1:p.Lys103Ter",
        "hgvsWellDefined": "ENSP00000482850.1:p.Lys103_Asn516delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuPheHisAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913193654",
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "referenceAllele": "A",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.3:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Lys103Ter",
        "hgvsWellDefined": "NP_000244.2:p.Lys103_Phe894delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018937",
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.1:c.388A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.1:p.Lys130Ter",
        "hgvsWellDefined": "NP_001287714.1:p.Lys130_Phe921delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913193654",
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.4:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Lys103Ter",
        "hgvsWellDefined": "NP_000244.2:p.Lys103_Phe894delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573069761",
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "A",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.2:c.58A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.2:p.Lys20Ter",
        "hgvsWellDefined": "NP_001287714.2:p.Lys20_Phe811delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829070060",
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001386140.1:c.307A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373069.1:p.Lys103Ter",
        "hgvsWellDefined": "NP_001373069.1:p.Lys103_Phe894delinsGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.307A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.307A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Lys103Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Lys103Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}