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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
12
g.65996209G=
CA2042857547
12
g.65996209G>T
CA691083493
dbSNP
gnomAD v3
gnomAD v4
12
g.65996213T>G
CA238999954
dbSNP
gnomAD v3
gnomAD v4
12
g.65996213T=
CA2042857549
12
g.65996214T>C
CA2042857551
dbSNP
12
g.65996214T=
CA2042857550
12
g.65996217A=
CA2042857553
12
g.65996217A>T
CA2042857554
dbSNP
12
g.65996222T>A
CA948683910
dbSNP
gnomAD v3
gnomAD v4
12
g.65996222T=
CA2042857557
12
g.65996223A=
CA2042857558
12
g.65996223A>G
CA2042857560
dbSNP
12
g.65996226G=
CA2042857564
12
g.65996226G>T
CA238999955
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.65996227G>A
CA2042857568
dbSNP
12
g.65996227G=
CA2042857567
12
g.65996228T>C
CA691083499
dbSNP
gnomAD v3
gnomAD v4
12
g.65996228T=
CA2042857570
12
g.65996230G>A
CA238999956
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.65996230G=
CA2042857571
12
g.65996233G>A
CA605683225
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.65996233G=
CA2042857574
12
g.65996245A=
CA2042857575
12
g.65996245A>C
CA2042857577
dbSNP
12
g.65996252A>G
CA2726510114
dbSNP
12
g.65996256T>C
CA238999957
dbSNP
gnomAD v3
gnomAD v4
12
g.65996256T=
CA2042857578
12
g.65996258G>A
CA605683226
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.65996258G=
CA2042857580
12
g.65996260A=
CA2042857582
12
g.65996260A>G
CA238999958
dbSNP
gnomAD v3
gnomAD v4
12
g.65996262A>T
CA605683227
gnomAD v2
gnomAD v3
gnomAD v4
12
g.65996272G>A
CA691083531
dbSNP
12
g.65996272G>C
CA948683922
dbSNP
gnomAD v3
gnomAD v4
12
g.65996272G=
CA2042857584
12
g.65996274T>G
CA238999959
dbSNP
gnomAD v3
gnomAD v4
12
g.65996274T=
CA2042857586
12
g.65996275C>A
CA2042857589
dbSNP
12
g.65996275C=
CA2042857588
12
g.65996277G>A
CA691083534
dbSNP
gnomAD v3
gnomAD v4
12
g.65996277G=
CA2042857591
12
g.65996279A=
CA2042857592
12
g.65996279A>G
CA238999960
dbSNP
gnomAD v3
gnomAD v4
12
g.65996280T>A
CA238999961
dbSNP
12
g.65996280T>C
CA238999962
dbSNP
gnomAD v3
gnomAD v4
12
g.65996280T=
CA2042857595
12
g.65996284T>A
CA2042857599
dbSNP
12
g.65996284T=
CA2042857598
12
g.65996286C>A
CA2536311827
12
g.65996288T>A
CA238999963
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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