Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

Chr	Mutation (hg38)	CAid	Linkouts
5	g.42288343T>C	CA558885189	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.42288343T=	CA1542056352
5	g.42288344A>G	CA2766043072
5	g.42288346A=	CA1542056354
5	g.42288346A>T	CA810809418	dbSNP gnomAD v3 gnomAD v4
5	g.42288352_42288354del	CA2596125648	gnomAD v3 gnomAD v4
5	g.42288350T>C	CA2766043073
5	g.42288351A=	CA1542056361
5	g.42288351A>C	CA117999829	dbSNP
5	g.42288351A>T	CA117999830	dbSNP
5	g.42288352A=	CA1542056366
5	g.42288352A>C	CA1542056367	dbSNP
5	g.42288353T>C	CA810809435	dbSNP gnomAD v3 gnomAD v4
5	g.42288353T=	CA1542056369
5	g.42288356_42288362delinsGAGTATT	CA1542056373
5	g.42288362_42288367del	CA1542056376	dbSNP
5	g.42288358G>A	CA117999831	dbSNP
5	g.42288358G=	CA1542056379
5	g.42288360A=	CA1542056383
5	g.42288360A>G	CA1075476059	dbSNP gnomAD v3 gnomAD v4
5	g.42288361T>C	CA1542056385	dbSNP
5	g.42288361T=	CA1542056384
5	g.42288362T>C	CA558885190	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.42288362T=	CA1542056388
5	g.42288367T>C	CA117999832	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.42288367T>G	CA1542056402	dbSNP
5	g.42288367T=	CA1542056396
5	g.42288371A=	CA1542056411
5	g.42288371A>G	CA1542056413	dbSNP
5	g.42288371A>T	CA810809449	dbSNP gnomAD v3 gnomAD v4
5	g.42288374A=	CA1542056416
5	g.42288374A>C	CA117999833	dbSNP
5	g.42288377T>C	CA1075476061	dbSNP gnomAD v3 gnomAD v4
5	g.42288377T=	CA1542056419
5	g.42288382G=	CA1542056421
5	g.42288382G>T	CA117999834	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.42288387A>T	CA2766043074
5	g.42288388T>C	CA1075476063	dbSNP gnomAD v3 gnomAD v4
5	g.42288388T=	CA1542056425
5	g.42288397T=	CA1542056428
5	g.42288401dup	CA117999835	dbSNP
5	g.42288400A=	CA1542056433
5	g.42288400A>G	CA1542056435	dbSNP
5	g.42288404A=	CA1542056438
5	g.42288404A>G	CA1075476064	dbSNP gnomAD v3 gnomAD v4
5	g.42288405T>G	CA810809458	dbSNP
5	g.42288405T=	CA1542056447
5	g.42288411T>C	CA1542056451	dbSNP
5	g.42288411T=	CA1542056449
5	g.42288421G>C	CA1542056454	dbSNP
5	g.42288421G=	CA1542056453
5	g.42288422G>A	CA558885191	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.42288422G=	CA1542056456
5	g.42288423_42288424delinsCA	CA1542056458
5	g.42288430dup	CA117999836	dbSNP gnomAD v3 gnomAD v4
5	g.42288430del	CA1542056464	dbSNP
5	g.42288428A=	CA1542056470
5	g.42288428A>G	CA117999837	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.42288431C>A	CA117999838	dbSNP gnomAD v3 gnomAD v4 COSMIC
5	g.42288431C=	CA1542056476
5	g.42288431C>T	CA117999839	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.42288432G>A	CA117999840	dbSNP gnomAD v3 gnomAD v4
5	g.42288432G=	CA1542056494
5	g.42288434T>A	CA117999841	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.42288434T=	CA1542056498
5	g.42288438A=	CA1542056501
5	g.42288438A>C	CA117999842	dbSNP
5	g.42288441C=	CA1542056505
5	g.42288441C>G	CA810809484	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched