Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.115738253A>G	CA301894	CASQ2	c.227T>C (p.Ile76Thr) c.503T>C (p.Ile168Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.115738253A=	CA1142216372	CASQ2	c.227T= (p.Ile76=) c.503T= (p.Ile168=)	dbSNP

Number of alleles fetched