Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.13492804A>GCA123436PTHc.52T>C (p.Cys18Arg)
c.148T>C (p.Cys50Arg)
ClinVar dbSNP
11g.13492804A>CCA379724961PTHc.52T>G (p.Cys18Gly)
c.148T>G (p.Cys50Gly)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched