HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000497482.1:p.Asp434_Asp463delinsThrAlaThrSerTrpMetArgSerSerProLysSerThrThrSerSerSerThrArgSerArgThrHisSerArgSerAsnProTrp |
CA2500840373
ENST00000649591.1:c.1299del
|