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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.17133489A>G
CA1139511114
gnomAD v3
gnomAD v4
Y
g.17133492del
CA2570929195
Y
g.17133495G>C
CA2549967409
Y
g.17133496C>T
CA2502128750
Y
g.17133508C=
CA2470827752
Y
g.17133508C>T
CA1139511116
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133517C=
CA2470827753
Y
g.17133517_17133518insA
CA1139511122
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133520G>A
CA337283682
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133520G>C
CA2589313541
gnomAD v3
gnomAD v4
Y
g.17133520G=
CA2470827754
Y
g.17133521G>A
CA1139511130
gnomAD v3
gnomAD v4
Y
g.17133521G>C
CA1139511131
gnomAD v3
gnomAD v4
Y
g.17133522G>A
CA1139511133
gnomAD v3
gnomAD v4
Y
g.17133524G>A
CA337283690
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133524G=
CA2470827755
Y
g.17133531G>T
CA2526183299
Y
g.17133537A=
CA2470827756
Y
g.17133537A>C
CA337283692
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133538G>A
CA337283694
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133538G=
CA2470827757
Y
g.17133539C>A
CA2500003909
Y
g.17133543T>A
CA2470827759
dbSNP
Y
g.17133543T=
CA2470827758
Y
g.17133545A>G
CA2537788297
Y
g.17133545A>T
CA1139511137
gnomAD v3
gnomAD v4
Y
g.17133561G>T
CA1139511139
gnomAD v3
gnomAD v4
Y
g.17133567T>G
CA1139511140
gnomAD v3
gnomAD v4
Y
g.17133573G>A
CA2509881268
Y
g.17133573G>T
CA2541134342
Y
g.17133575C>A
CA2532761247
Y
g.17133583T>C
CA337283695
dbSNP
Y
g.17133583T=
CA2470827760
Number of alleles fetched
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