Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50198459C>ACA260317COL1A1c.517G>T (p.Gly173Ter)
n.244G>T
ClinVar dbSNP
17g.50198459C>TCA8645683COL1A1c.517G>A (p.Gly173Arg)
n.244G>A
dbSNP ExAC gnomAD

Number of alleles fetched