HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000050.2:p.[Ser1606_Lys1614del;Ser1617_Leu1620delinsArgLeuTrp;Arg1622_Asn1626delinsHis;Lys1628_Thr1629del;Lys1631del;Ile1633_Leu1635del] |
CA2695199687
NM_000059.3:c.4817del
|