HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000376543.1:p.[Val1229_Met1254delinsSerLeuGlyAlaCysArgThrAlaProMetValCysValAlaAlaThrThrAlaThrLeuMetMetThrTrpArgCys;Met1256_Leu1258delinsTrpValCys] |
CA6327265
ENST00000392793.6:c.3685del
|