{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412573731",
  "communityStandardTitle": [
    "NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1678062[alleleid]",
        "alleleId": 1678062,
        "preferredName": "NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1686050",
        "RCV": [
          "RCV002250217"
        ],
        "variationId": 1686050
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22239801A>T?assembly=hg19",
        "id": "chrX:g.22239801A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22221684A>T?assembly=hg38",
        "id": "chrX:g.22221684A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147174526",
        "rs": 2147174526
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 22221684,
          "referenceAllele": "A",
          "start": 22221683
        }
      ],
      "hgvs": [
        "NC_000023.11:g.22221684A>T",
        "CM000685.2:g.22221684A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 22239801,
          "referenceAllele": "A",
          "start": 22239800
        }
      ],
      "hgvs": [
        "NC_000023.10:g.22239801A>T",
        "CM000685.1:g.22239801A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 22149722,
          "referenceAllele": "A",
          "start": 22149721
        }
      ],
      "hgvs": [
        "NC_000023.9:g.22149722A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193881,
          "referenceAllele": "A",
          "start": 193880
        }
      ],
      "hgvs": [
        "NG_007563.2:g.193881A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000650"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "A",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000682888.1:c.394A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508003.1:p.Lys132Ter",
        "hgvsWellDefined": "ENSP00000508003.1:p.Lys132_Phe172del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "A",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000683162.1:c.394A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508059.1:p.Lys132Ter",
        "hgvsWellDefined": "ENSP00000508059.1:p.Lys132_Lys246delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheSerGlnProAlaAsnMetAsnGluTrpProLeuSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "A",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000683289.1:c.394A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508195.1:p.Lys132Ter",
        "hgvsWellDefined": "ENSP00000508195.1:p.Lys132_Leu242delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyMetGlnArgTrpArgLysAlaLeuGlyMetAspValGluGluArgAsnProLysSerSerPheHisThrGlyArgArgGlnGluThrGlyArgIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "A",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000683917.1:n.624A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "A",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000684356.1:c.394A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507619.1:p.Lys132Ter",
        "hgvsWellDefined": "ENSP00000507619.1:p.Lys132_Trp267delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "A",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000684745.1:n.1514A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "referenceAllele": "A",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.5:c.1840A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368682.4:p.Lys614Ter",
        "hgvsWellDefined": "ENSP00000368682.4:p.Lys614_Trp749delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.1840A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.1840A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Lys614Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Lys614Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "A",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.4:c.1840A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368682.4:p.Lys614Ter",
        "hgvsWellDefined": "ENSP00000368682.4:p.Lys614_Trp749delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825172284",
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "A",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.5:c.1840A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Lys614Ter",
        "hgvsWellDefined": "NP_000435.3:p.Lys614_Trp749delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573194310",
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "A",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.1:c.1840A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Lys614Ter",
        "hgvsWellDefined": "NP_001269683.1:p.Lys614_Asn695delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "A",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545533.1:c.1084A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543835.1:p.Lys362Ter",
        "hgvsWellDefined": "XP_011543835.1:p.Lys362_Trp497delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "A",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545534.1:c.1084A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543836.1:p.Lys362Ter",
        "hgvsWellDefined": "XP_011543836.1:p.Lys362_Trp497delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545536.1:c.733A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543838.1:p.Lys245Ter",
        "hgvsWellDefined": "XP_011543838.1:p.Lys245_Trp380delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 5786,
          "referenceAllele": "T",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 5785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037703",
      "geneNCBI_id": 100873065,
      "geneSymbol": "PTCHD1-AS",
      "hgvs": [
        "NR_073010.2:n.1048+5786T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "A",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545536.2:c.733A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543838.1:p.Lys245Ter",
        "hgvsWellDefined": "XP_011543838.1:p.Lys245_Trp380delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "A",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_017029579.1:c.1084A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885068.1:p.Lys362Ter",
        "hgvsWellDefined": "XP_016885068.1:p.Lys362_Trp497delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "A",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_024452390.1:c.1549A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308158.1:p.Lys517Ter",
        "hgvsWellDefined": "XP_024308158.1:p.Lys517_Trp652delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2680,
          "referenceAllele": "A",
          "start": 2679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XR_001755695.1:n.2680A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825172284",
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "referenceAllele": "A",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.6:c.1840A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Lys614Ter",
        "hgvsWellDefined": "NP_000435.3:p.Lys614_Trp749delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.1840A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.1840A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Lys614Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Lys614Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573194310",
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "referenceAllele": "A",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.2:c.1840A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Lys614Ter",
        "hgvsWellDefined": "NP_001269683.1:p.Lys614_Asn695delinsThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681890"
    }
  ],
  "type": "nucleotide"
}