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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.16845367C=
CA2470803970
Y
g.16845367C>T
CA337254467
dbSNP
gnomAD v3
gnomAD v4
Y
g.16845381A>T
CA1139358317
gnomAD v3
gnomAD v4
Y
g.16845391A>T
CA1139358320
gnomAD v3
gnomAD v4
Y
g.16845397T>C
CA2470803972
dbSNP
Y
g.16845397T=
CA2470803971
Y
g.16845402C>A
CA337254469
dbSNP
Y
g.16845402C=
CA2470803973
Y
g.16845403A>G
CA1139358325
gnomAD v3
gnomAD v4
Y
g.16845404A>G
CA1139358326
gnomAD v3
gnomAD v4
Y
g.16845407T>G
CA2824993419
Y
g.16845413C>G
CA1139358330
gnomAD v3
gnomAD v4
Y
g.16845415T>C
CA1139358333
gnomAD v3
gnomAD v4
Y
g.16845417G>A
CA1139358335
gnomAD v3
gnomAD v4
Y
g.16845426C>T
CA2531125212
Y
g.16845428C>T
CA2567663439
Y
g.16845431C>T
CA2571844583
Y
g.16845432C>T
CA2542479225
Y
g.16845439C>T
CA2507499997
Y
g.16845445T>G
CA2533153010
Y
g.16845446C>T
CA2563400663
Y
g.16845447C>T
CA2540702976
Y
g.16845449T>C
CA337254472
dbSNP
Y
g.16845449T=
CA2470803974
Y
g.16845461T>C
CA2589312637
gnomAD v3
gnomAD v4
Y
g.16845466A=
CA2470803975
Y
g.16845466A>C
CA1139358336
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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