HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001257376.1:p.[Phe334_Asp336delinsSerLeuMetGluTyr;Val338_Asn344delinsCysHisArgArgThrCysTrp;Val345_Leu346insArg;Glu348del;Gly350Ala;Gly352_Gly363delinsArgLeuProCysThrSerSerThrMetGlu] |
CA8337906
NM_001270447.2:c.1001del
|