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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
Y
g.6132267A>G
CA2572665824
Y
g.6132270A>C
CA2824479299
Y
g.6132278T>A
CA2824479300
Y
g.6132279_6132280insTCCTCC
CA2540702504
Y
g.6132280G>A
CA2524098305
Y
g.6132280G>C
CA2562070182
Y
g.6132289T>A
CA2824479301
Y
g.6132303G>A
CA1138738007
gnomAD v3
gnomAD v4
Y
g.6132304G>A
CA2545639408
Y
g.6132308A=
CA2469866476
Y
g.6132308A>C
CA2469866477
dbSNP
Y
g.6132311C>A
CA2572414366
Y
g.6132311C=
CA2469866478
Y
g.6132311C>T
CA1138738009
dbSNP
gnomAD v3
gnomAD v4
Y
g.6132312G>A
CA1138738014
gnomAD v3
gnomAD v4
Y
g.6132312G>C
CA1138738015
Y
g.6132319del
CA2824479302
Y
g.6132321A=
CA2469866480
Y
g.6132321A>G
CA2469866479
dbSNP
Y
g.6132324G>A
CA1138738016
gnomAD v3
gnomAD v4
Y
g.6132325_6132326delinsGC
CA2469866481
Y
g.6132326del
CA1138738055
dbSNP
gnomAD v3
gnomAD v4
Y
g.6132326C>A
CA1138738060
gnomAD v3
gnomAD v4
Y
g.6132326C>T
CA1138738047
gnomAD v3
gnomAD v4
Y
g.6132327A>T
CA2824479303
Y
g.6132330C>A
CA2824479304
Y
g.6132338T>A
CA2469866483
dbSNP
Y
g.6132338T=
CA2469866482
Y
g.6132340C>A
CA2469866485
dbSNP
Y
g.6132340C=
CA2469866484
Y
g.6132347_6132348delinsAT
CA2469866486
Y
g.6132355dup
CA1138738074
dbSNP
gnomAD v3
gnomAD v4
Y
g.6132354_6132355dup
CA2520481210
Y
g.6132355del
CA2469866487
dbSNP
Y
g.6132358C>T
CA2589271587
dbSNP
gnomAD v3
gnomAD v4
Y
g.6132366A=
CA2469866488
Y
g.6132366A>G
CA2469866489
dbSNP
Number of alleles fetched
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