HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Ser206_Gly219delinsValAlaSerAlaSerThrProAlaGlyAlaValMetValAla;Asp221_Thr235delinsThrAlaArgThrAsnLeuThrArgLysThrAlaLeuTrpProPro] |
CA2573050577
NM_000527.5:c.616del
|