Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102852922C>GCA481331560PAHc.735G>C (p.Val245=)
c.720G>C (p.Val240=)
n.494G>C
dbSNP
12g.102852922C>TCA145982PAHc.735G>A (p.Val245=)
c.720G>A (p.Val240=)
n.494G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852922C>ACA481331559PAHc.735G>T (p.Val245=)
c.720G>T (p.Val240=)
n.494G>T
dbSNP

Number of alleles fetched