Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.149570117G>A	CA251599	MMADHC	c.748C>T (p.Arg250Ter) c.850C>T (p.Arg284Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.149570117G=	CA1297264326	MMADHC	c.748C= (p.Arg250=) c.850C= (p.Arg284=)	dbSNP

Number of alleles fetched