HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000512717.1:p.[Asn104_Ala114delinsThrCysAlaAlaThrThrThrArgAlaArgPro;Ser116_Val127delinsLeuThrProSerArgAlaCysThrAlaAlaThrTrp;Pro129_Asp130delinsArgThr;Arg132_Leu133delinsAlaSer] |
CA3711733
ENST00000696559.1:c.311del
|