{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344984",
  "communityStandardTitle": [
    "NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76562[alleleid]",
        "alleleId": 76562,
        "preferredName": "NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65654",
        "RCV": [
          "RCV000694487"
        ],
        "variationId": 65654
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68571545G>A?assembly=hg19",
        "id": "chr11:g.68571545G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68804077G>A?assembly=hg38",
        "id": "chr11:g.68804077G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356782",
        "rs": 80356782
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68804077-G-A?dataset=gnomad_r4",
        "id": "11-68804077-G-A",
        "variant": "11:68804077 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68804077,
          "referenceAllele": "G",
          "start": 68804076
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68804077G>A",
        "CM000673.2:g.68804077G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68571545,
          "referenceAllele": "G",
          "start": 68571544
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68571545G>A",
        "CM000673.1:g.68571545G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68328121,
          "referenceAllele": "G",
          "start": 68328120
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68328121G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42855,
          "referenceAllele": "C",
          "start": 42854
        }
      ],
      "hgvs": [
        "NG_011801.1:g.42855C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001982"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.10:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:p.Arg160Ter",
        "hgvsWellDefined": "ENSP00000265641.4:p.Arg160_Lys773delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.478C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.478C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:p.Arg160Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:p.Arg160Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.9:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:p.Arg160Ter",
        "hgvsWellDefined": "ENSP00000265641.4:p.Arg160_Lys773delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000376618.6:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365803.2:p.Arg160Ter",
        "hgvsWellDefined": "ENSP00000365803.2:p.Arg160_Thr756delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000539743.5:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446108.1:p.Arg160Ter",
        "hgvsWellDefined": "ENSP00000446108.1:p.Arg160_Lys773delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000540367.5:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439084.1:p.Arg160Ter",
        "hgvsWellDefined": "ENSP00000439084.1:p.Arg160_Thr756delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344985",
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.2:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Arg160Ter",
        "hgvsWellDefined": "NP_001027017.1:p.Arg160_Thr756delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344986",
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.3:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:p.Arg160Ter",
        "hgvsWellDefined": "NP_001867.2:p.Arg160_Lys773delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:p.Arg192Ter",
        "hgvsWellDefined": "XP_005273819.1:p.Arg192_Lys805delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273763.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273820.1:p.Arg192Ter",
        "hgvsWellDefined": "XP_005273820.1:p.Arg192_Thr788delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.3:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:p.Arg192Ter",
        "hgvsWellDefined": "XP_005273819.1:p.Arg192_Lys805delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_017017220.1:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872709.1:p.Arg160Ter",
        "hgvsWellDefined": "XP_016872709.1:p.Arg160_Lys773delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344986",
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.4:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:p.Arg160Ter",
        "hgvsWellDefined": "NP_001867.2:p.Arg160_Lys773delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.478C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.478C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:p.Arg160Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:p.Arg160Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA344985",
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.3:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Arg160Ter",
        "hgvsWellDefined": "NP_001027017.1:p.Arg160_Thr756delinsLysProMetLeuTyrSerPheGlnThrSerLeuProArgLeuProValProAlaValLysAspThrValAsnArgTyrLeuGlnSerValArgProLeuMetLysGluGluAspPheLysArgMetThrAlaLeuAlaGlnAspPheAlaValGlyLeuGlyProArgLeuGlnTrpTyrLeuLysLeuLysSerTrpTrpAlaThrAsnTyrValSerAspTrpTrpGluGluTyrIleTyrLeuArgGlyArgGlyProLeuMetValAsnSerAsnTyrTyrAlaMetAspLeuLeuTyrIleLeuProThrHisIleGlnAlaAlaArgAlaGlyAsnAlaIleHisAlaIleLeuLeuTyrArgArgLysLeuAspArgGluGluIleLysProIleArgLeuLeuGlySerThrIleProLeuCysSerAlaGlnTrpGluArgMetPheAsnThrSerArgIleProGlyGluGluThrAspThrIleGlnHisMetArgAspSerLysHisIleValValTyrHisArgGlyArgTyrPheLysValTrpLeuTyrHisAspGlyArgLeuLeuLysProArgGluMetGluGlnGlnMetGlnArgIleLeuAspAsnThrSerGluProGlnProGlyGluAlaArgLeuAlaAlaLeuThrAlaGlyAspArgValProTrpAlaArgCysArgGlnAlaTyrPheGlyArgGlyLysAsnLysGlnSerLeuAspAlaValGluLysAlaAlaPhePheValThrLeuAspGluThrGluGluGlyTyrArgSerGluAspProAspThrSerMetAspSerTyrAlaLysSerLeuLeuHisGlyArgCysTyrAspArgTrpPheAspLysSerPheThrPheValValPheLysAsnGlyLysMetGlyLeuAsnAlaGluHisSerTrpAlaAspAlaProIleValAlaHisLeuTrpGluTyrValMetSerIleAspSerLeuGlnLeuGlyTyrAlaGluAspGlyHisCysLysGlyAspIleAsnProAsnIleProTyrProThrArgLeuGlnTrpAspIleProGlyGluCysGlnGluValIleGluThrSerLeuAsnThrAlaAsnLeuLeuAlaAsnAspValAspPheHisSerPheProPheValAlaPheGlyLysGlyIleIleLysLysCysArgThrSerProAspAlaPheValGlnLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711494"
    }
  ],
  "type": "nucleotide"
}