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
8	g.30728254T>C	CA2716732285	dbSNP
8	g.30728256T>A	CA850682641	dbSNP gnomAD v3 gnomAD v4
8	g.30728258G>A	CA850682643	dbSNP
8	g.30728262G>A	CA850682644	dbSNP gnomAD v3 gnomAD v4
8	g.30728265C>G	CA1112359129	dbSNP gnomAD v3 gnomAD v4
8	g.30728267T>G	CA174826685	dbSNP gnomAD v3 gnomAD v4
8	g.30728268G>T	CA2779587563
8	g.30728269C>G	CA850682645	dbSNP
8	g.30728272T>C	CA2716732286	dbSNP
8	g.30728279del	CA1112359131	dbSNP gnomAD v3 gnomAD v4
8	g.30728279G>A	CA174826686	dbSNP gnomAD v3 gnomAD v4
8	g.30728280A>T	CA1112359133	dbSNP gnomAD v3 gnomAD v4
8	g.30728282A>C	CA1112359136	dbSNP gnomAD v3 gnomAD v4
8	g.30728285G>A	CA2716732289	dbSNP
8	g.30728286G>A	CA174826687	dbSNP gnomAD v2
8	g.30728295C>G	CA850682649	dbSNP gnomAD v3 gnomAD v4
8	g.30728297C>T	CA1112359143	dbSNP gnomAD v3 gnomAD v4
8	g.30728300C>T	CA174826688	dbSNP gnomAD v3 gnomAD v4
8	g.30728301C>T	CA850682670	dbSNP gnomAD v3 gnomAD v4
8	g.30728302_30728309dup	CA2497470521	dbSNP
8	g.30728305C>G	CA850682672	dbSNP
8	g.30728310G>A	CA2509074016
8	g.30728316_30728339del	CA2595657077	gnomAD v3 gnomAD v4
8	g.30728317G>A	CA850682674	dbSNP
8	g.30728321C>A	CA1112359147	dbSNP gnomAD v3 gnomAD v4
8	g.30728322G>A	CA850682679	dbSNP
8	g.30728322G>C	CA850682681	dbSNP
8	g.30728323A>G	CA580968576	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.30728323A>T	CA850682685	dbSNP gnomAD v3 gnomAD v4
8	g.30728327C>G	CA850682686	dbSNP gnomAD v3 gnomAD v4
8	g.30728328T>G	CA2716732293	dbSNP
8	g.30728332C>T	CA2513325793	dbSNP
8	g.30728335T>C	CA2716678838	dbSNP
8	g.30728335T>G	CA850682690	dbSNP gnomAD v3 gnomAD v4
8	g.30728341C>T	CA2716732295	dbSNP
8	g.30728343C>T	CA174826689	dbSNP
8	g.30728344C>T	CA850682693	dbSNP gnomAD v3 gnomAD v4
8	g.30728345A>G	CA580968577	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.30728348T>C	CA850682706	dbSNP gnomAD v3 gnomAD v4
8	g.30728353T>C	CA2716704161	dbSNP

Number of alleles fetched