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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.80014476A=
CA2439976000
X
g.80014476A>T
CA1134610713
dbSNP
gnomAD v3
gnomAD v4
X
g.80014477A=
CA2439976001
X
g.80014477A>G
CA2439976002
dbSNP
X
g.80014479G>T
CA658279825
COSMIC
X
g.80014480C=
CA2439976003
X
g.80014480C>G
CA878630760
dbSNP
X
g.80014481A=
CA2439976004
X
g.80014482T>C
CA1134610719
dbSNP
gnomAD v3
gnomAD v4
X
g.80014482T=
CA2439976005
X
g.80014487dup
CA331777138
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014484T>C
CA2822022500
X
g.80014485T>A
CA1134610724
gnomAD v3
gnomAD v4
X
g.80014487T=
CA2439976006
X
g.80014490dup
CA331777139
dbSNP
gnomAD v3
gnomAD v4
X
g.80014490C>A
CA331777140
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.80014490C=
CA2439976007
X
g.80014492A=
CA2439976008
X
g.80014492A>G
CA1134610725
dbSNP
gnomAD v3
gnomAD v4
X
g.80014494T>G
CA2822022501
X
g.80014495_80014498delinsGCAT
CA2439976009
X
g.80014496_80014498del
CA2439976010
dbSNP
X
g.80014499T>C
CA2822022502
X
g.80014499T>G
CA2439976011
dbSNP
X
g.80014499T=
CA2439976012
X
g.80014499_80014523delinsTAGCCTGTAGCTCAGAGCAGGATGC
CA2439976013
X
g.80014504_80014527del
CA878630762
dbSNP
X
g.80014508G=
CA2439976014
X
g.80014508G>T
CA331777141
dbSNP
X
g.80014520A=
CA2439976015
X
g.80014520A>G
CA2439976016
dbSNP
X
g.80014522G>C
CA658279827
COSMIC
X
g.80014523C=
CA2439976017
X
g.80014523C>T
CA658279829
dbSNP
COSMIC
X
g.80014526C=
CA2439976018
X
g.80014526C>G
CA642793945
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
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
Number of alleles fetched
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