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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.6132240A>G
CA2824479293
Y
g.6132241T>C
CA1138737988
gnomAD v3
gnomAD v4
Y
g.6132243G>T
CA2824479294
Y
g.6132249_6132254del
CA1138737989
gnomAD v3
gnomAD v4
Y
g.6132248G>A
CA1138737990
dbSNP
gnomAD v3
gnomAD v4
Y
g.6132248G=
CA2469866469
Y
g.6132249C>A
CA2548095369
Y
g.6132250A>G
CA1138737994
gnomAD v3
gnomAD v4
Y
g.6132251_6132252del
CA2513917140
Y
g.6132251del
CA2824479295
Y
g.6132251_6132252delinsTA
CA2469866470
Y
g.6132252del
CA880386625
dbSNP
gnomAD v3
gnomAD v4
Y
g.6132252A=
CA2469866471
Y
g.6132252A>C
CA2824479296
Y
g.6132252A>G
CA2469866472
dbSNP
Y
g.6132252A>T
CA2469866473
dbSNP
Y
g.6132257del
CA1138738001
gnomAD v3
gnomAD v4
Y
g.6132254G>T
CA2824479297
Y
g.6132256G>A
CA2499651255
Y
g.6132256G>T
CA2824479298
Y
g.6132262G=
CA2469866474
Y
g.6132262G>T
CA2469866475
dbSNP
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
Number of alleles fetched
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