Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.52488365C>G	CA217333	KRT6A	c.1387G>C (p.Ala463Pro)	ClinVar dbSNP
12	g.52488365C>A	CA384953384	KRT6A	c.1387G>T (p.Ala463Ser)	dbSNP gnomAD v3 gnomAD v4
12	g.52488365C>T	CA384953386	KRT6A	c.1387G>A (p.Ala463Thr)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched