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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
X
g.51486689C=
CA2429220883
X
g.51486689C>T
CA2429220884
dbSNP
X
g.51486692G>A
CA2820897252
X
g.51486701G>A
CA2429220886
dbSNP
X
g.51486701G=
CA2429220885
X
g.51486710G>A
CA876208902
dbSNP
gnomAD v3
gnomAD v4
X
g.51486710G=
CA2429220887
X
g.51486711C>A
CA876208904
dbSNP
gnomAD v3
gnomAD v4
X
g.51486711C=
CA2429220888
X
g.51486711C>T
CA1133113929
dbSNP
gnomAD v3
gnomAD v4
X
g.51486712C=
CA2429220889
X
g.51486712C>T
CA876208910
dbSNP
gnomAD v3
gnomAD v4
X
g.51486713G>A
CA641829351
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486713G=
CA2429220890
X
g.51486715C>A
CA641829353
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486715C=
CA2429220891
X
g.51486716T>G
CA641829355
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486716T=
CA2429220892
X
g.51486724C=
CA2429220893
X
g.51486724C>T
CA1133113931
dbSNP
gnomAD v3
gnomAD v4
X
g.51486728A=
CA2429220894
X
g.51486728A>G
CA876208911
dbSNP
X
g.51486729T>C
CA329837868
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486729T=
CA2429220895
X
g.51486730C>G
CA658035875
COSMIC
COSMIC
X
g.51486732_51486733del
CA2820897253
X
g.51486738dup
CA2567544176
X
g.51486738del
CA2549874931
X
g.51486740A=
CA2429220897
X
g.51486740A>G
CA2429220896
dbSNP
X
g.51486743T>C
CA2429220899
dbSNP
X
g.51486743T=
CA2429220898
X
g.51486746T>C
CA1133113933
dbSNP
gnomAD v3
gnomAD v4
X
g.51486746T=
CA2429220900
X
g.51486749A=
CA2429220901
X
g.51486749A>G
CA2429220902
dbSNP
X
g.51486752T>C
CA2552075057
X
g.51486753T>G
CA329837869
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486753T=
CA2429220903
X
g.51486754G=
CA2429220904
X
g.51486754G>T
CA876208922
dbSNP
gnomAD v3
gnomAD v4
X
g.51486758G>A
CA2429220906
dbSNP
X
g.51486758G>C
CA641829358
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486758G=
CA2429220905
X
g.51486765T>G
CA641829360
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.51486765T=
CA2429220907
X
g.51486768T>C
CA876208931
dbSNP
gnomAD v3
gnomAD v4
X
g.51486768T=
CA2429220908
X
g.51486770T>C
CA2594701026
gnomAD v3
gnomAD v4
X
g.51486773C>T
CA2594701027
gnomAD v3
gnomAD v4
X
g.51486774C>A
CA2429220910
dbSNP
X
g.51486774C=
CA2429220909
X
g.51486778A=
CA2429220911
X
g.51486778A>G
CA2429220912
dbSNP
X
g.51486781C>A
CA1133113937
gnomAD v3
gnomAD v4
X
g.51486784_51486786delinsTGA
CA2429220913
X
g.51486788_51486789del
CA2429220914
dbSNP
Number of alleles fetched
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