Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.634687A>GCA214247c.347A>G (p.Lys116Arg)
dbSNP
Xg.634687A>GCA214246SHOXc.347A>G (p.Lys116Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.634687A=CA2467796019c.347A= (p.Lys116=)
dbSNP

Number of alleles fetched