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.12941767C>A	CA337722876	CASKP1	n.334+3853G>T	dbSNP gnomAD v3 gnomAD v4
Y	g.12941767C=	CA2470566730	CASKP1	n.334+3853G=
Y	g.12941768C>T	CA1139179340	CASKP1	n.334+3852G>A	gnomAD v3 gnomAD v4
Y	g.12941769C>G	CA1139179343	CASKP1	n.334+3851G>C	gnomAD v3 gnomAD v4
Y	g.12941800C>G	CA1139179344	CASKP1	n.334+3820G>C	gnomAD v3 gnomAD v4
Y	g.12941808A>G	CA1139179348	CASKP1	n.334+3812T>C	gnomAD v3 gnomAD v4
Y	g.12941814A>G	CA1139179355	CASKP1	n.334+3806T>C	gnomAD v3 gnomAD v4
Y	g.12941816C>G	CA1139179358	CASKP1	n.334+3804G>C	gnomAD v3 gnomAD v4
Y	g.12941834C=	CA2470566731	CASKP1	n.334+3786G=
Y	g.12941834C>T	CA1139179375	CASKP1	n.334+3786G>A	dbSNP gnomAD v3 gnomAD v4
Y	g.12941843A>G	CA2553708497	CASKP1	n.334+3777T>C
Y	g.12941848G>A	CA1139179383	CASKP1	n.334+3772C>T	dbSNP gnomAD v3 gnomAD v4
Y	g.12941848G=	CA2470566732	CASKP1	n.334+3772C=
Y	g.12941858C>A	CA2539598857	CASKP1	n.334+3762G>T
Y	g.12941858C>G	CA1139179408	CASKP1	n.334+3762G>C	gnomAD v3 gnomAD v4
Y	g.12941860C=	CA2470566733	CASKP1	n.334+3760G=
Y	g.12941860C>T	CA337722877	CASKP1	n.334+3760G>A	dbSNP
Y	g.12941865T>C	CA1139179410	CASKP1	n.334+3755A>G	gnomAD v3 gnomAD v4

Number of alleles fetched