Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.853022G>A	CA281052	ELANE	c.214G>A (p.Val72Met)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19	g.853022G>C	CA402914946	ELANE	c.214G>C (p.Val72Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.853022G=	CA2317359670	ELANE	c.214G= (p.Val72=)	dbSNP

Number of alleles fetched