HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_004492.2:p.[Ala112_Ala113insArg;Gly114_Gly119delinsArgTrpArgArgArgArg;Met121_Ala126delinsProArgLysThrArgThr;Ser128_Gln136delinsThrIleArgValSerArgLys;Phe138_Leu145delinsLysMetSerSer;Asp147del] |
CA2580063540
NM_004501.3:c.336_351del
|