Allele Registry

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.

Chr	Mutation (hg38)	CAid	Linkouts
5	g.63290471_63290480dup	CA120161341	dbSNP gnomAD v3 gnomAD v4
5	g.63290474T>A	CA12001935	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.63290474T=	CA1551104532
5	g.63290475T>C	CA2509456015
5	g.63290478C=	CA1551104537
5	g.63290478C>T	CA120161343	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.63290479G>A	CA120161344	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.63290479G=	CA1551104540
5	g.63290482G>A	CA120161345	dbSNP
5	g.63290482G=	CA1551104543
5	g.63290487A=	CA1551104546
5	g.63290487A>G	CA650096251	dbSNP COSMIC
5	g.63290490T>C	CA1551104551	dbSNP
5	g.63290490T>G	CA1551104550	dbSNP
5	g.63290490T=	CA1551104549
5	g.63290495A=	CA1551104553
5	g.63290495A>C	CA1076780352	dbSNP gnomAD v3 gnomAD v4
5	g.63290496A=	CA1551104555
5	g.63290496A>G	CA560057091	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.63290501A=	CA1551104557
5	g.63290501A>G	CA560057092	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.63290504A>T	CA1076780356	gnomAD v3 gnomAD v4
5	g.63290507C=	CA1551104561
5	g.63290507C>G	CA1551104562	dbSNP
5	g.63290507C>T	CA812990767	dbSNP gnomAD v3 gnomAD v4
5	g.63290508T>G	CA2766716562
5	g.63290509C=	CA1551104564
5	g.63290509C>T	CA1551104565	dbSNP
5	g.63290513T>C	CA120161346	dbSNP gnomAD v3 gnomAD v4
5	g.63290513T=	CA1551104568
5	g.63290515G>A	CA1551104571	dbSNP
5	g.63290515G=	CA1551104569
5	g.63290518G>A	CA1076780359	dbSNP gnomAD v3 gnomAD v4
5	g.63290518G=	CA1551104572
5	g.63290519G=	CA1551104574
5	g.63290519G>T	CA1551104575	dbSNP
5	g.63290520G>A	CA560057093	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.63290520G=	CA1551104578
5	g.63290523A>G	CA2709134073	dbSNP
5	g.63290525T>C	CA812990779	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.63290525T=	CA1551104582
5	g.63290531G=	CA1551104584
5	g.63290531G>T	CA1076780366	dbSNP gnomAD v3 gnomAD v4
5	g.63290532T>C	CA120161347	dbSNP gnomAD v3 gnomAD v4
5	g.63290532T=	CA1551104587
5	g.63290536C=	CA1551104590
5	g.63290536C>T	CA1076780368	dbSNP gnomAD v3 gnomAD v4
5	g.63290545_63290546insAAATGATGAAGATCTCTATGAACTGAAATACAGTGATTTCCAGACATCTTG	CA2529603767
5	g.63290547A=	CA1551104591
5	g.63290547A>C	CA1076780370	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched