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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
18
g.43228773A=
CA2299303970
18
g.43228773A>G
CA2299303971
dbSNP
18
g.43228777C>A
CA2299303973
dbSNP
18
g.43228777C=
CA2299303972
18
g.43228786T>G
CA989685903
dbSNP
gnomAD v3
gnomAD v4
18
g.43228786T=
CA2299303974
18
g.43228790A=
CA2299303975
18
g.43228790A>G
CA779531096
dbSNP
gnomAD v3
gnomAD v4
18
g.43228791T>C
CA2299303977
dbSNP
18
g.43228791T=
CA2299303976
18
g.43228792G>A
CA299531569
dbSNP
gnomAD v3
gnomAD v4
18
g.43228792G=
CA2299303978
18
g.43228795T>A
CA2299303980
dbSNP
18
g.43228795T=
CA2299303979
18
g.43228797G>A
CA2734878162
dbSNP
18
g.43228798A=
CA2299303981
18
g.43228798A>G
CA299531570
dbSNP
18
g.43228799C=
CA2299303982
18
g.43228799C>T
CA299531571
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228800T>C
CA2515248085
18
g.43228804del
CA2528883222
18
g.43228804A=
CA2299303983
18
g.43228804A>C
CA779531106
dbSNP
18
g.43228805C=
CA2299303984
18
g.43228805C>T
CA299531572
dbSNP
gnomAD v3
gnomAD v4
18
g.43228805_43228806delinsCT
CA2299303985
18
g.43228806T>A
CA779531112
dbSNP
gnomAD v3
gnomAD v4
18
g.43228806T>G
CA2299303987
dbSNP
18
g.43228806T=
CA2299303988
18
g.43228812dup
CA299531573
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228812del
CA2299303986
dbSNP
18
g.43228808T>C
CA299531574
dbSNP
gnomAD v3
gnomAD v4
18
g.43228808T=
CA2299303989
18
g.43228810T>C
CA629674895
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228810T=
CA2299303990
18
g.43228811T>A
CA2299303992
dbSNP
18
g.43228811T=
CA2299303991
18
g.43228812T>G
CA2299303994
dbSNP
18
g.43228812T=
CA2299303993
18
g.43228816C=
CA2299303995
18
g.43228816C>T
CA299531575
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228819T>C
CA299531576
dbSNP
18
g.43228819T=
CA2299303996
18
g.43228819_43228820delinsTC
CA2299303997
18
g.43228820del
CA2299303999
dbSNP
18
g.43228820C=
CA2299303998
18
g.43228820C>T
CA629674896
dbSNP
gnomAD v2
18
g.43228823T>C
CA2299304001
dbSNP
18
g.43228823T=
CA2299304000
18
g.43228824A=
CA2299304002
18
g.43228824A>G
CA989685917
dbSNP
gnomAD v3
gnomAD v4
18
g.43228826T>A
CA2516136590
18
g.43228826T>G
CA989685923
dbSNP
gnomAD v3
gnomAD v4
18
g.43228826T=
CA2299304003
18
g.43228827C=
CA2299304004
18
g.43228827C>G
CA2545830591
18
g.43228827C>T
CA629674897
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228828G>A
CA299531577
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228828G>C
CA2299304006
dbSNP
18
g.43228828G=
CA2299304005
18
g.43228830G=
CA2299304007
18
g.43228830G>T
CA779531133
dbSNP
18
g.43228831G>A
CA2532105583
18
g.43228831G=
CA2299304008
18
g.43228831G>T
CA779531140
dbSNP
gnomAD v3
gnomAD v4
18
g.43228832A=
CA2299304009
18
g.43228832A>T
CA2299304010
dbSNP
18
g.43228833G>A
CA2581344376
18
g.43228833G>C
CA2581344375
18
g.43228833G=
CA2299304011
18
g.43228833G>T
CA14548338
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228835_43228836delinsAT
CA2299304012
18
g.43228836del
CA779531142
dbSNP
gnomAD v3
gnomAD v4
18
g.43228836T>A
CA629674900
dbSNP
gnomAD v2
18
g.43228836T=
CA2299304013
18
g.43228838T>C
CA989685947
dbSNP
gnomAD v3
gnomAD v4
18
g.43228838T=
CA2299304014
18
g.43228840T>C
CA2548079736
18
g.43228841C=
CA2299304015
18
g.43228841C>T
CA629674901
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228846A>T
CA2812278753
18
g.43228851T>C
CA629674903
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228851T=
CA2299304016
18
g.43228857A=
CA2299304017
18
g.43228857A>G
CA779531153
dbSNP
18
g.43228857A>T
CA2537634528
18
g.43228859A>C
CA2734878163
dbSNP
18
g.43228860C=
CA2299304018
18
g.43228860C>T
CA779531158
dbSNP
gnomAD v3
gnomAD v4
18
g.43228862C>A
CA2299304020
dbSNP
18
g.43228862C=
CA2299304019
18
g.43228862C>T
CA779531159
dbSNP
gnomAD v3
gnomAD v4
18
g.43228867C=
CA2299304021
18
g.43228867C>T
CA299531578
dbSNP
gnomAD v3
gnomAD v4
18
g.43228868A=
CA2299304022
18
g.43228868A>G
CA629674904
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43228868A>T
CA779531161
dbSNP
Number of alleles fetched
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