Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.6625356G>ACA210361DCHS1c.6988C>T (p.Arg2330Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.6625356G=CA1950219088DCHS1c.6988C= (p.Arg2330=)
dbSNP

Number of alleles fetched