HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000379.3:p.[Gly143_Leu157delinsGluGlnLeuAlaGlnAlaSerProArgGlnTrpGlnIleCysTrp;Leu159_Ile162delinsSerSerThrPhe;Gln164_Arg172delinsArgSerValMetProProProAlaAsp] |
CA2577869985
NM_000388.4:c.428del
|