HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001036002.1:p.[Val34Glu;Val36_Trp39delinsLeuArgThrAla;Gly41del;Ser43_Ala50delinsGluArgLeuGluProTrpThrArg;Ala52_Val58delinsSerCysProArg;Glu60del;Gln62_His67delinsProArgArgAlaThrGly;Gln69del] |
CA1137594978
NM_001042537.2:c.101_119del
|