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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
18
g.43292327C=
CA2299336752
18
g.43292327C>T
CA2299336753
dbSNP
18
g.43292328A=
CA2299336754
18
g.43292328A>C
CA2299336755
dbSNP
18
g.43292330A>G
CA2812280245
18
g.43292331G>A
CA989695517
dbSNP
gnomAD v3
gnomAD v4
18
g.43292331G=
CA2299336756
18
g.43292332G>A
CA2299336757
dbSNP
18
g.43292332G=
CA2299336758
18
g.43292334A>G
CA657041092
COSMIC
18
g.43292335T>G
CA2299336760
dbSNP
gnomAD v3
gnomAD v4
18
g.43292335T=
CA2299336759
18
g.43292337G=
CA2299336761
18
g.43292337G>T
CA299539597
dbSNP
gnomAD v3
gnomAD v4
18
g.43292338T>C
CA299539598
dbSNP
18
g.43292338T=
CA2299336762
18
g.43292339A=
CA2299336763
18
g.43292339A>G
CA779518824
dbSNP
18
g.43292341C=
CA2299336764
18
g.43292341C>G
CA2299336765
dbSNP
18
g.43292341C>T
CA2299336766
dbSNP
18
g.43292342C=
CA2299336767
18
g.43292342C>T
CA299539599
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43292344A=
CA2299336768
18
g.43292344A>G
CA779518829
dbSNP
gnomAD v3
gnomAD v4
18
g.43292347T>C
CA989695520
dbSNP
gnomAD v3
gnomAD v4
18
g.43292347T=
CA2299336769
18
g.43292349T>C
CA299539600
dbSNP
18
g.43292349T>G
CA2299336771
dbSNP
18
g.43292349T=
CA2299336770
18
g.43292357A=
CA2299336772
18
g.43292357A>G
CA989695521
dbSNP
gnomAD v3
gnomAD v4
18
g.43292358A=
CA2299336773
18
g.43292358A>C
CA2299336774
dbSNP
18
g.43292365T>C
CA2299336775
dbSNP
18
g.43292365T=
CA2299336776
18
g.43292366G=
CA2299336777
18
g.43292366G>T
CA299539601
dbSNP
gnomAD v3
gnomAD v4
18
g.43292367T>C
CA299539602
dbSNP
18
g.43292367T=
CA2299336778
18
g.43292371A>G
CA2734877211
dbSNP
18
g.43292372A=
CA2299336780
18
g.43292372A>G
CA629677600
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43292372_43292376delinsAAGAC
CA2299336779
18
g.43292378_43292381del
CA629677601
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43292379A>T
CA629677602
gnomAD v2
18
g.43292380C>A
CA779518848
dbSNP
18
g.43292380C=
CA2299336781
18
g.43292380C>T
CA779518851
dbSNP
gnomAD v3
gnomAD v4
18
g.43292382T>C
CA2299336783
dbSNP
Number of alleles fetched
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