Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
Y	g.13090510T>C	CA2550968844	SFPQP1	n.556-4065T>C
Y	g.13090511G>A	CA2500477074	SFPQP1	n.556-4064G>A
Y	g.13090516C=	CA2470575233	SFPQP1	n.556-4059C=
Y	g.13090516C>T	CA337725467	SFPQP1	n.556-4059C>T	dbSNP
Y	g.13090517T>C	CA2531127302	SFPQP1	n.556-4058T>C
Y	g.13090517_13090518insG	CA2560486979	SFPQP1	n.556-4058_556-4057insG
Y	g.13090520T>G	CA2530634522	SFPQP1	n.556-4055T>G
Y	g.13090522del	CA2548431096	SFPQP1	n.556-4053del
Y	g.13090528A>G	CA2528522588	SFPQP1	n.556-4047A>G
Y	g.13090535T>C	CA2558995894	SFPQP1	n.556-4040T>C
Y	g.13090536A>T	CA2545453148	SFPQP1	n.556-4039A>T
Y	g.13090540T>C	CA2523723579	SFPQP1	n.556-4035T>C
Y	g.13090577A>C	CA1139230174	SFPQP1	n.556-3998A>C	gnomAD v3 gnomAD v4
Y	g.13090585_13090588del	CA2543910830	SFPQP1	n.556-3990_556-3987del
Y	g.13090585T>C	CA1139230179	SFPQP1	n.556-3990T>C	gnomAD v3 gnomAD v4
Y	g.13090589C>T	CA2523233767	SFPQP1	n.556-3986C>T
Y	g.13090590A>T	CA1139230186	SFPQP1	n.556-3985A>T	gnomAD v3 gnomAD v4
Y	g.13090590_13090591insGCT	CA2542234026	SFPQP1	n.556-3985_556-3984insGCT
Y	g.13090594_13090596dup	CA2512068328	SFPQP1	n.556-3981_556-3979dup
Y	g.13090601T>C	CA2516585111	SFPQP1	n.556-3974T>C

Number of alleles fetched