Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222297132C>ACA253050PAX3c.167G>T (p.Arg56Leu)
n.548G>T
c.311G>T (p.Arg104Leu)
ClinVar dbSNP
2g.222297132C>GCA351113680PAX3c.167G>C (p.Arg56Pro)
n.548G>C
c.311G>C (p.Arg104Pro)
dbSNP gnomAD v4

Number of alleles fetched