HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000337915.3:p.[Gln492Leu;Phe494del;Phe496_Glu501delinsArg;Gln503_Ile504delinsSer;Leu506_Lys507delinsSerAsn;Ser509_Gln515delinsValLysLysHisArgSer;Glu517_Val521del] |
CA2546710694
ENST00000336411.7:c.1473_1474insTTGAACTC
|