{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA222556", "communityStandardTitle": [ "NM_004006.3(DMD):c.9896A>G (p.His3299Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100765[alleleid]", "alleleId": 100765, "preferredName": "NM_004006.3(DMD):c.9896A>G (p.His3299Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94865", "RCV": [ "RCV001200315", "RCV000705818" ], "variationId": 94865 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31200933T>C?assembly=hg19", "id": "chrX:g.31200933T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31182816T>C?assembly=hg38", "id": "chrX:g.31182816T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398124107", "rs": 398124107 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 31182816, "referenceAllele": "T", "start": 31182815 } ], "hgvs": [ "NC_000023.11:g.31182816T>C", "CM000685.2:g.31182816T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 31200933, "referenceAllele": "T", "start": 31200932 } ], "hgvs": [ "NC_000023.10:g.31200933T>C", "CM000685.1:g.31200933T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 31110854, "referenceAllele": "T", "start": 31110853 } ], "hgvs": [ "NC_000023.9:g.31110854T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "G", "end": 2161794, "referenceAllele": "A", "start": 2161793 } ], "hgvs": [ "NG_012232.1:g.2161794A>G", "LRG_199:g.2161794A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4742, "referenceAllele": "A", "start": 4741 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.4742A>G" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.His1581Arg", "hgvsWellDefined": "ENSP00000350765.3:p.His1581Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "G", "end": 830, "referenceAllele": "A", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.2:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000506634.2:p.His231Arg", "hgvsWellDefined": "ENSP00000506634.2:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS826946" }, { "coordinates": [ { "allele": "G", "end": 815, "referenceAllele": "A", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.2:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000506359.2:p.His231Arg", "hgvsWellDefined": "ENSP00000506359.2:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS826950" }, { "coordinates": [ { "allele": "G", "end": 694, "referenceAllele": "A", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681989.1:n.694A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS826989" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.2516A>G" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:p.His839Arg", "hgvsWellDefined": "ENSP00000508124.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "G", "end": 830, "referenceAllele": "A", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682322.1:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000507690.1:p.His231Arg", "hgvsWellDefined": "ENSP00000507690.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS827314" }, { "coordinates": [ { "allele": "G", "end": 830, "referenceAllele": "A", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682600.1:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000507640.1:p.His231Arg", "hgvsWellDefined": "ENSP00000507640.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS827590" }, { "coordinates": [ { "allele": "G", "end": 605, "endIntronDirection": "-", "endIntronOffset": 2334, "referenceAllele": "A", "start": 605, "startIntronDirection": "-", "startIntronOffset": 2335 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682769.1:n.606-2335A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827758" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "A", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683509.1:n.1413A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828483" }, { "coordinates": [ { "allele": "G", "end": 995, "referenceAllele": "A", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683675.1:n.995A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828646" }, { "coordinates": [ { "allele": "G", "end": 1414, "referenceAllele": "A", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683709.1:n.1414A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828680" }, { "coordinates": [ { "allele": "G", "end": 3388, "referenceAllele": "A", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.3388A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.2516A>G" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.His839Arg", "hgvsWellDefined": "ENSP00000508037.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "G", "end": 1953, "referenceAllele": "A", "start": 1952 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.7:c.1751A>G" ], "proteinEffect": { "hgvs": "ENSP00000340057.4:p.His584Arg", "hgvsWellDefined": "ENSP00000340057.4:p.His584Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS748148" }, { "coordinates": [ { "allele": "G", "end": 10133, "referenceAllele": "A", "start": 10132 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.9896A>G" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.His3299Arg", "hgvsWellDefined": "ENSP00000354923.3:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.9896A>G" }, "RefSeq": { "hgvs": "NM_004006.3:c.9896A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.His3299Arg" }, "RefSeq": { "hgvs": "NP_003997.2:p.His3299Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "A", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000475732.2:n.262A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS757162" }, { "coordinates": [ { "allele": "G", "end": 6044, "referenceAllele": "A", "start": 6043 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.5864A>G" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.His1955Arg", "hgvsWellDefined": "ENSP00000479270.2:p.His1955Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.2516A>G" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.His839Arg", "hgvsWellDefined": "ENSP00000478150.2:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "G", "end": 737, "endIntronDirection": "-", "endIntronOffset": 2334, "referenceAllele": "A", "start": 737, "startIntronDirection": "-", "startIntronOffset": 2335 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679641.1:c.604-2335A>G" ], "proteinEffect": { "hgvs": "ENSP00000506135.1:n.604-2335A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS779269" }, { "coordinates": [ { "allele": "G", "end": 694, "referenceAllele": "A", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.1:c.569A>G" ], "proteinEffect": { "hgvs": "ENSP00000506634.1:p.His190Arg", "hgvsWellDefined": "ENSP00000506634.1:p.His190Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS779782" }, { "coordinates": [ { "allele": "G", "end": 830, "referenceAllele": "A", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680355.1:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000506257.1:p.His231Arg", "hgvsWellDefined": "ENSP00000506257.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS779973" }, { "coordinates": [ { "allele": "G", "end": 722, "endIntronDirection": "+", "endIntronOffset": 21145, "referenceAllele": "A", "start": 722, "startIntronDirection": "+", "startIntronOffset": 21144 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680557.1:c.603+21145A>G" ], "proteinEffect": { "hgvs": "ENSP00000505164.1:n.603+21145A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS780172" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "A", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.1:c.635A>G" ], "proteinEffect": { "hgvs": "ENSP00000506359.1:p.His212Arg", "hgvsWellDefined": "ENSP00000506359.1:p.His212Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS780383" }, { "coordinates": [ { "allele": "G", "end": 3468, "endIntronDirection": "-", "endIntronOffset": 2334, "referenceAllele": "A", "start": 3468, "startIntronDirection": "-", "startIntronOffset": 2335 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.2428-2335A>G" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:n.2428-2335A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "G", "end": 830, "referenceAllele": "A", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681153.1:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000505124.1:p.His231Arg", "hgvsWellDefined": "ENSP00000505124.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS780765" }, { "coordinates": [ { "allele": "G", "end": 826, "referenceAllele": "A", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681654.1:n.826A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS781260" }, { "coordinates": [ { "allele": "G", "end": 1770, "referenceAllele": "A", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.6:c.1709A>G" ], "proteinEffect": { "hgvs": "ENSP00000340057.3:p.His570Arg", "hgvsWellDefined": "ENSP00000340057.3:p.His570Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS261779" }, { "coordinates": [ { "allele": "G", "end": 10103, "referenceAllele": "A", "start": 10102 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.9896A>G" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.His3299Arg", "hgvsWellDefined": "ENSP00000354923.3:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "G", "end": 2984, "referenceAllele": "A", "start": 2983 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.2984A>G" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.His995Arg", "hgvsWellDefined": "ENSP00000350765.2:p.His995Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.2516A>G" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.His839Arg", "hgvsWellDefined": "ENSP00000352894.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "G", "end": 770, "referenceAllele": "A", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000361471.8:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000354464.4:p.His231Arg", "hgvsWellDefined": "ENSP00000354464.4:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS265493" }, { "coordinates": [ { "allele": "G", "end": 10079, "referenceAllele": "A", "start": 10078 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.9884A>G" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.His3295Arg", "hgvsWellDefined": "ENSP00000367948.2:p.His3295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "G", "end": 812, "referenceAllele": "A", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378680.6:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000367951.2:p.His231Arg", "hgvsWellDefined": "ENSP00000367951.2:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272148" }, { "coordinates": [ { "allele": "G", "end": 720, "referenceAllele": "A", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378702.8:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000367974.4:p.His231Arg", "hgvsWellDefined": "ENSP00000367974.4:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272160" }, { "coordinates": [ { "allele": "G", "end": 266, "referenceAllele": "A", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378705.3:c.266A>G" ], "proteinEffect": { "hgvs": "ENSP00000367977.3:p.His89Arg", "hgvsWellDefined": "ENSP00000367977.3:p.His89Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272161" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.2516A>G" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.His839Arg", "hgvsWellDefined": "ENSP00000367979.3:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "G", "end": 815, "referenceAllele": "A", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378723.7:c.692A>G" ], "proteinEffect": { "hgvs": "ENSP00000367997.3:p.His231Arg", "hgvsWellDefined": "ENSP00000367997.3:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272172" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.2516A>G" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.His839Arg", "hgvsWellDefined": "ENSP00000417123.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "G", "end": 112, "referenceAllele": "A", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000475732.1:n.112A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS316949" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.2516A>G" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.His839Arg", "hgvsWellDefined": "ENSP00000444119.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "G", "end": 9881, "referenceAllele": "A", "start": 9880 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.9881A>G" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.His3294Arg", "hgvsWellDefined": "ENSP00000479270.1:p.His3294Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "G", "end": 9893, "referenceAllele": "A", "start": 9892 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.9893A>G" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.His3298Arg", "hgvsWellDefined": "ENSP00000478150.1:p.His3298Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "G", "end": 10216, "referenceAllele": "A", "start": 10215 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.9872A>G" ], "proteinEffect": { "hgvs": "NP_000100.2:p.His3291Arg", "hgvsWellDefined": "NP_000100.2:p.His3291Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA222558", "coordinates": [ { "allele": "G", "end": 10140, "referenceAllele": "A", "start": 10139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.9896A>G", "LRG_199t1:c.9896A>G" ], "proteinEffect": { "hgvs": "NP_003997.1:p.His3299Arg", "hgvsWellDefined": "NP_003997.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829493980", "coordinates": [ { "allele": "G", "end": 10147, "referenceAllele": "A", "start": 10146 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.9884A>G" ], "proteinEffect": { "hgvs": "NP_004000.1:p.His3295Arg", "hgvsWellDefined": "NP_004000.1:p.His3295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829499080", "coordinates": [ { "allele": "G", "end": 10230, "referenceAllele": "A", "start": 10229 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.9527A>G" ], "proteinEffect": { "hgvs": "NP_004001.1:p.His3176Arg", "hgvsWellDefined": "NP_004001.1:p.His3176Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "G", "end": 5918, "referenceAllele": "A", "start": 5917 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.5873A>G" ], "proteinEffect": { "hgvs": "NP_004002.2:p.His1958Arg", "hgvsWellDefined": "NP_004002.2:p.His1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "G", "end": 6061, "referenceAllele": "A", "start": 6060 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.5864A>G" ], "proteinEffect": { "hgvs": "NP_004003.1:p.His1955Arg", "hgvsWellDefined": "NP_004003.1:p.His1955Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004004.1:p.His839Arg", "hgvsWellDefined": "NP_004004.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "G", "end": 1770, "referenceAllele": "A", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.2:c.1709A>G" ], "proteinEffect": { "hgvs": "NP_004005.1:p.His570Arg", "hgvsWellDefined": "NP_004005.1:p.His570Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029209" }, { "@id": "http://reg.genome.network/allele/PA2829505940", "coordinates": [ { "allele": "G", "end": 770, "referenceAllele": "A", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.2:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004006.1:p.His231Arg", "hgvsWellDefined": "NP_004006.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029210" }, { "@id": "http://reg.genome.network/allele/PA2829506478", "coordinates": [ { "allele": "G", "end": 770, "referenceAllele": "A", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.2:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004007.1:p.His231Arg", "hgvsWellDefined": "NP_004007.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029211" }, { "@id": "http://reg.genome.network/allele/PA2829507011", "coordinates": [ { "allele": "G", "end": 770, "referenceAllele": "A", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.2:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004008.1:p.His231Arg", "hgvsWellDefined": "NP_004008.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029212" }, { "@id": "http://reg.genome.network/allele/PA2829507527", "coordinates": [ { "allele": "G", "end": 770, "referenceAllele": "A", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.2:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004009.1:p.His231Arg", "hgvsWellDefined": "NP_004009.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029213" }, { "@id": "http://reg.genome.network/allele/PA2829508016", "coordinates": [ { "allele": "G", "end": 770, "referenceAllele": "A", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004019.2:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004010.1:p.His231Arg", "hgvsWellDefined": "NP_004010.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029214" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004011.2:p.His839Arg", "hgvsWellDefined": "NP_004011.2:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004012.1:p.His839Arg", "hgvsWellDefined": "NP_004012.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004013.1:p.His839Arg", "hgvsWellDefined": "NP_004013.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004014.1:p.His839Arg", "hgvsWellDefined": "NP_004014.1:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "G", "end": 10093, "referenceAllele": "A", "start": 10092 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.9896A>G" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.His3299Arg", "hgvsWellDefined": "XP_006724531.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "G", "end": 9975, "referenceAllele": "A", "start": 9974 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.9872A>G" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.His3291Arg", "hgvsWellDefined": "XP_006724532.1:p.His3291Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "G", "end": 10093, "referenceAllele": "A", "start": 10092 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.9896A>G" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.His3299Arg", "hgvsWellDefined": "XP_006724533.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "G", "end": 10093, "referenceAllele": "A", "start": 10092 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.9896A>G" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.His3299Arg", "hgvsWellDefined": "XP_006724534.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "G", "end": 9964, "referenceAllele": "A", "start": 9963 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.9767A>G" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.His3256Arg", "hgvsWellDefined": "XP_006724535.1:p.His3256Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "G", "end": 9955, "referenceAllele": "A", "start": 9954 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.9758A>G" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.His3253Arg", "hgvsWellDefined": "XP_006724536.1:p.His3253Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "G", "end": 10093, "referenceAllele": "A", "start": 10092 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.9896A>G" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.His3299Arg", "hgvsWellDefined": "XP_006724537.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "G", "end": 10093, "referenceAllele": "A", "start": 10092 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.9896A>G" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.His3299Arg", "hgvsWellDefined": "XP_006724538.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "G", "end": 9970, "referenceAllele": "A", "start": 9969 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.9773A>G" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.His3258Arg", "hgvsWellDefined": "XP_011543769.1:p.His3258Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "G", "end": 10067, "referenceAllele": "A", "start": 10066 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.9872A>G" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.His3291Arg", "hgvsWellDefined": "XP_006724532.1:p.His3291Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "G", "end": 10093, "referenceAllele": "A", "start": 10092 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.9896A>G" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.His3299Arg", "hgvsWellDefined": "XP_006724533.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "G", "end": 10093, "referenceAllele": "A", "start": 10092 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.9896A>G" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.His3299Arg", "hgvsWellDefined": "XP_006724537.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "G", "end": 10093, "referenceAllele": "A", "start": 10092 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.9896A>G" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.His3299Arg", "hgvsWellDefined": "XP_016884817.1:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "G", "end": 4669, "referenceAllele": "A", "start": 4668 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.4070A>G" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.His1357Arg", "hgvsWellDefined": "XP_016884820.1:p.His1357Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825074831", "coordinates": [ { "allele": "G", "end": 9995, "referenceAllele": "A", "start": 9994 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.9872A>G" ], "proteinEffect": { "hgvs": "NP_000100.3:p.His3291Arg", "hgvsWellDefined": "NP_000100.3:p.His3291Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829487567", "coordinates": [ { "allele": "G", "end": 10133, "referenceAllele": "A", "start": 10132 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.9896A>G" ], "proteinEffect": { "hgvs": "NP_003997.2:p.His3299Arg", "hgvsWellDefined": "NP_003997.2:p.His3299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.9896A>G" }, "RefSeq": { "hgvs": "NM_004006.3:c.9896A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.His3299Arg" }, "RefSeq": { "hgvs": "NP_003997.2:p.His3299Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2829500823", "coordinates": [ { "allele": "G", "end": 5892, "referenceAllele": "A", "start": 5891 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.5873A>G" ], "proteinEffect": { "hgvs": "NP_004002.3:p.His1958Arg", "hgvsWellDefined": "NP_004002.3:p.His1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829503413", "coordinates": [ { "allele": "G", "end": 6035, "referenceAllele": "A", "start": 6034 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.5864A>G" ], "proteinEffect": { "hgvs": "NP_004003.2:p.His1955Arg", "hgvsWellDefined": "NP_004003.2:p.His1955Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829505940", "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "A", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.3:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004006.1:p.His231Arg", "hgvsWellDefined": "NP_004006.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696017" }, { "@id": "http://reg.genome.network/allele/PA2829506478", "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "A", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.3:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004007.1:p.His231Arg", "hgvsWellDefined": "NP_004007.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696018" }, { "@id": "http://reg.genome.network/allele/PA2829507011", "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "A", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.3:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004008.1:p.His231Arg", "hgvsWellDefined": "NP_004008.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696019" }, { "@id": "http://reg.genome.network/allele/PA2829507527", "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "A", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.3:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004009.1:p.His231Arg", "hgvsWellDefined": "NP_004009.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696020" }, { "@id": "http://reg.genome.network/allele/PA2829508016", "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "A", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004019.3:c.692A>G" ], "proteinEffect": { "hgvs": "NP_004010.1:p.His231Arg", "hgvsWellDefined": "NP_004010.1:p.His231Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696021" }, { "@id": "http://reg.genome.network/allele/PA2829510128", "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004012.2:p.His839Arg", "hgvsWellDefined": "NP_004012.2:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA916002839", "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004014.2:p.His839Arg", "hgvsWellDefined": "NP_004014.2:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829504623", "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004004.2:p.His839Arg", "hgvsWellDefined": "NP_004004.2:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829505485", "coordinates": [ { "allele": "G", "end": 1768, "referenceAllele": "A", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.3:c.1709A>G" ], "proteinEffect": { "hgvs": "NP_004005.2:p.His570Arg", "hgvsWellDefined": "NP_004005.2:p.His570Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS727463" }, { "@id": "http://reg.genome.network/allele/PA2829508998", "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004011.3:p.His839Arg", "hgvsWellDefined": "NP_004011.3:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829511309", "coordinates": [ { "allele": "G", "end": 3557, "referenceAllele": "A", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.2516A>G" ], "proteinEffect": { "hgvs": "NP_004013.2:p.His839Arg", "hgvsWellDefined": "NP_004013.2:p.His839Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }