HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000009.1:p.[Phe311_Asp313delinsSerLeuMetGluTyr;Val315_Asn321delinsCysHisArgArgThrCysTrp;Val322_Leu323insArg;Glu325del;Gly327Ala;Gly329_Gly340delinsArgLeuProCysThrSerSerThrMetGlu] |
CA8337906
NM_000018.4:c.932del
|