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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
Y
g.14110596T>C
CA2824925177
Y
g.14110600C>T
CA2531499464
Y
g.14110605G>T
CA2824925178
Y
g.14110625del
CA2530016065
Y
g.14110627C>A
CA2589302743
gnomAD v3
gnomAD v4
Y
g.14110630A=
CA2470637839
Y
g.14110630A>G
CA1139319996
dbSNP
gnomAD v3
gnomAD v4
Y
g.14110632C=
CA2470637840
Y
g.14110632C>T
CA1139319997
dbSNP
gnomAD v3
gnomAD v4
Y
g.14110636G>A
CA1139319998
gnomAD v3
gnomAD v4
Y
g.14110637G>T
CA1139319999
gnomAD v3
gnomAD v4
Y
g.14110638C>A
CA1139320001
gnomAD v3
gnomAD v4
Y
g.14110644T>G
CA2470637842
dbSNP
Y
g.14110644T=
CA2470637841
Y
g.14110646G>A
CA2470637844
dbSNP
gnomAD v3
gnomAD v4
Y
g.14110646G=
CA2470637843
Y
g.14110646G>T
CA880347348
dbSNP
Y
g.14110649C=
CA2470637845
Y
g.14110649C>T
CA337742812
dbSNP
gnomAD v3
gnomAD v4
Y
g.14110650_14110651insCCACCCCCCC
CA2567420045
Y
g.14110653T>C
CA2515802727
Y
g.14110655A>C
CA2570686108
Y
g.14110656C>G
CA2504992230
Y
g.14110657C>A
CA658612317
COSMIC
Y
g.14110661G>C
CA2517928665
Y
g.14110667A>G
CA2513913469
Y
g.14110672T>A
CA2470637847
dbSNP
Y
g.14110672T=
CA2470637846
Y
g.14110681T>A
CA2470637849
dbSNP
Y
g.14110681T>C
CA337742813
dbSNP
gnomAD v3
gnomAD v4
Y
g.14110681T=
CA2470637848
Y
g.14110682G>A
CA880347349
dbSNP
gnomAD v3
gnomAD v4
Y
g.14110682G=
CA2470637850
Y
g.14110703_14110718del
CA2824925179
Y
g.14110691T>C
CA1139320005
gnomAD v3
gnomAD v4
Number of alleles fetched
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