Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.45500333A>T	CA21825901	MMACHC	c.1A>T (p.Met1Leu) c.-222A>T (n.-222A>T)	ClinVar dbSNP
1	g.45500333A>G	CA827593	MMACHC	c.1A>G (p.Met1Val) c.-222A>G (n.-222A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched