Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.38367367G>ACA224474OTCc.154G>A (p.Glu52Lys)
c.172-298754G>A (p.=)
n.246G>A
ClinVar dbSNP
Xg.38367367G>TCA224476OTCc.154G>T (p.Glu52Ter)
c.172-298754G>T (p.=)
n.246G>T
ClinVar dbSNP

Number of alleles fetched