HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000496441.1:p.[Ala230_Asp231delinsLeuThr;Ser233_Thr234delinsProGln;Asp236_Asn242delinsThrPheIle;Leu244_Lys246delinsThrSerThr;Lys248_Pro259delinsCys] |
CA021998
ENST00000645339.1:c.687del
|