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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
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.7571871T>C
CA2348492802
dbSNP
20
g.7571871T=
CA2348492801
20
g.7571874A=
CA2348492803
20
g.7571874A>C
CA311567901
dbSNP
20
g.7571878G=
CA2348492804
20
g.7571878G>T
CA634530195
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.7571879G>C
CA634530197
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.7571879G=
CA2348492805
20
g.7571886C>T
CA2736228519
dbSNP
20
g.7571888A=
CA2348492806
20
g.7571888A>C
CA2348492807
dbSNP
20
g.7571898T>C
CA311567902
dbSNP
gnomAD v3
gnomAD v4
20
g.7571898T=
CA2348492808
20
g.7571900A=
CA2348492809
20
g.7571900A>T
CA2348492810
dbSNP
20
g.7571901C>A
CA746721069
dbSNP
20
g.7571901C=
CA2348492811
20
g.7571901C>T
CA634530199
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.7571902G>A
CA311567903
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.7571902G=
CA2348492812
20
g.7571904G>A
CA311567904
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.7571904G=
CA2348492813
20
g.7571904G>T
CA657431922
COSMIC
20
g.7571905C>A
CA1015175336
dbSNP
gnomAD v3
gnomAD v4
20
g.7571905C=
CA2348492814
20
g.7571907T>C
CA311567905
dbSNP
gnomAD v3
gnomAD v4
20
g.7571907T=
CA2348492815
20
g.7571909A=
CA2348492816
20
g.7571909A>G
CA746721080
dbSNP
gnomAD v3
gnomAD v4
20
g.7571910T>A
CA311567906
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.7571910T>C
CA746721089
dbSNP
20
g.7571910T=
CA2348492817
20
g.7571912A>T
CA2815190941
20
g.7571914G=
CA2348492818
20
g.7571914G>T
CA746721096
dbSNP
gnomAD v3
gnomAD v4
20
g.7571915C=
CA2348492820
20
g.7571915C>T
CA2348492819
dbSNP
20
g.7571920T>C
CA746721100
dbSNP
gnomAD v3
gnomAD v4
20
g.7571920T=
CA2348492821
20
g.7571924A=
CA2348492822
20
g.7571924A>G
CA746721101
dbSNP
20
g.7571928_7571931delinsGAAT
CA2348492823
20
g.7571929_7571931del
CA2348492824
dbSNP
20
g.7571930A=
CA2348492826
20
g.7571930A>T
CA2348492825
dbSNP
20
g.7571931T>A
CA311567907
dbSNP
20
g.7571931T=
CA2348492827
20
g.7571932G>A
CA2589709104
dbSNP
gnomAD v3
gnomAD v4
20
g.7571939T>C
CA2348492829
dbSNP
20
g.7571939T>G
CA1015175342
dbSNP
gnomAD v3
gnomAD v4
20
g.7571939T=
CA2348492828
20
g.7571946C=
CA2348492830
20
g.7571946C>T
CA746721110
dbSNP
gnomAD v3
gnomAD v4
20
g.7571948T>C
CA311567908
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.7571948T=
CA2348492831
20
g.7571968_7571969insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAATTGAAGCTTAAA
CA1015175344
gnomAD v3
gnomAD v4
20
g.7571952A>G
CA2815190942
20
g.7571957T>C
CA311567909
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.7571957T=
CA2348492832
20
g.7571958T>A
CA311567910
dbSNP
20
g.7571958T=
CA2348492833
20
g.7571971A=
CA2348492834
20
g.7571971A>C
CA2348492835
dbSNP
Number of alleles fetched
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