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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
X
g.80014536T>C
CA1134610732
dbSNP
gnomAD v3
gnomAD v4
X
g.80014536T=
CA2439976019
X
g.80014543C=
CA2439976020
X
g.80014543C>T
CA331777142
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014544G>A
CA331777143
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014544G=
CA2439976022
X
g.80014544G>T
CA2439976021
dbSNP
X
g.80014545G>A
CA2439976024
dbSNP
X
g.80014545G=
CA2439976023
X
g.80014546G>A
CA1134610737
dbSNP
gnomAD v3
gnomAD v4
X
g.80014546G=
CA2439976025
X
g.80014549G>A
CA2439976027
dbSNP
X
g.80014549G=
CA2439976026
X
g.80014558G>A
CA2526694336
X
g.80014561T>C
CA2439976029
dbSNP
X
g.80014561T=
CA2439976028
X
g.80014563C=
CA2439976030
X
g.80014563C>T
CA331777144
dbSNP
gnomAD v3
gnomAD v4
X
g.80014564A>G
CA2738826311
dbSNP
X
g.80014566G>A
CA1134610744
dbSNP
gnomAD v3
gnomAD v4
X
g.80014566G=
CA2439976031
X
g.80014568T>C
CA1134610747
dbSNP
gnomAD v3
gnomAD v4
X
g.80014568T=
CA2439976032
X
g.80014569G>A
CA2439976034
dbSNP
X
g.80014569G=
CA2439976033
X
g.80014574C>T
CA2562439159
X
g.80014575A=
CA2439976035
X
g.80014575A>T
CA331777145
dbSNP
gnomAD v3
gnomAD v4
X
g.80014578C>A
CA2822022503
X
g.80014581G>C
CA331777146
dbSNP
X
g.80014581G=
CA2439976036
X
g.80014583G>A
CA878630772
dbSNP
gnomAD v3
gnomAD v4
X
g.80014583G=
CA2439976037
X
g.80014584G>A
CA331777147
dbSNP
gnomAD v3
gnomAD v4
X
g.80014584G=
CA2439976038
X
g.80014585C>A
CA2439976040
dbSNP
X
g.80014585C=
CA2439976039
X
g.80014586T>C
CA878630774
dbSNP
X
g.80014586T=
CA2439976041
X
g.80014588T>C
CA1134610751
dbSNP
gnomAD v3
gnomAD v4
X
g.80014588T=
CA2439976042
X
g.80014589G>A
CA1134610756
dbSNP
gnomAD v3
gnomAD v4
X
g.80014589G=
CA2439976043
X
g.80014604A>G
CA2822022504
X
g.80014605G>A
CA642793948
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014605G=
CA2439976044
X
g.80014605G>T
CA2822022505
X
g.80014607_80014609delinsCTG
CA2439976045
X
g.80014608T>A
CA2439976047
dbSNP
X
g.80014608T=
CA2439976046
X
g.80014609_80014610del
CA878630778
dbSNP
gnomAD v3
gnomAD v4
X
g.80014610T>C
CA2694166016
gnomAD v4
X
g.80014611C=
CA2439976048
X
g.80014611C>T
CA642793950
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014612A=
CA2439976049
X
g.80014612A>G
CA2439976050
dbSNP
X
g.80014614T>A
CA331777148
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014614T=
CA2439976051
X
g.80014617G>A
CA331777149
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014617G=
CA2439976052
X
g.80014617G>T
CA2694166017
gnomAD v4
X
g.80014618A>C
CA2514827527
X
g.80014619C=
CA2439976053
X
g.80014619C>T
CA2439976054
dbSNP
gnomAD v4
X
g.80014622C>A
CA2694166018
gnomAD v4
X
g.80014622C=
CA2439976055
X
g.80014622C>T
CA878630781
dbSNP
gnomAD v3
gnomAD v4
X
g.80014623A>G
CA2694166019
gnomAD v4
X
g.80014624T>A
CA2439976057
dbSNP
X
g.80014624T=
CA2439976056
X
g.80014625G>A
CA2439976059
dbSNP
X
g.80014625G=
CA2439976058
X
g.80014626G>A
CA642793953
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014626G=
CA2439976060
X
g.80014626G>T
CA2694166020
gnomAD v4
X
g.80014627C>T
CA2694166021
gnomAD v4
X
g.80014628C>A
CA2822022506
X
g.80014628C=
CA2439976061
X
g.80014628C>T
CA2439976062
dbSNP
gnomAD v4
X
g.80014630A=
CA2439976063
X
g.80014630A>G
CA331777150
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014631C>T
CA2694166022
gnomAD v4
X
g.80014632C>A
CA2546445973
gnomAD v4
X
g.80014632C=
CA2439976064
X
g.80014632C>G
CA331777151
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014634T>C
CA2694166023
gnomAD v4
X
g.80014634T>G
CA878630785
dbSNP
X
g.80014634T=
CA2439976065
X
g.80014635G>A
CA2694166024
gnomAD v4
Number of alleles fetched
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