Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
X	g.48792371G>A	CA340965	GATA1	c.398G>A (p.Arg133Gln) c.647G>A (p.Arg216Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
X	g.48792371G=	CA2428390653	GATA1	c.398G= (p.Arg133=) c.647G= (p.Arg216=)	dbSNP

Number of alleles fetched