NOTICE - API Response Change: Users of the API please note that
clingenPreferredTitle is now communityStandardTitle
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166306951G>A | CA16043379 | SCN9A | c.377+5C>T (p.=) n.377+5C>T (p.=) n.732+5C>T c.*120+198C>T (p.=) c.-15+198C>T (p.=) n.691+5C>T | ClinVar dbSNP gnomAD |
| 2 | g.166306951G>T | CA1944814 | SCN9A | c.377+5C>A (p.=) n.377+5C>A (p.=) n.732+5C>A c.*120+198C>A (p.=) c.-15+198C>A (p.=) n.691+5C>A | dbSNP ExAC gnomAD |