Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45500335G>ACA312724MMACHCc.3G>A (p.Met1Ile)
c.-220G>A (n.-220G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45500335G=CA2473780176MMACHCc.3G= (p.Met1=)
c.-220G= (n.-220G=)
dbSNP

Number of alleles fetched