HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000302.1:p.[Ser43_Trp57delinsAlaLeuGluAlaThrAlaThrHisLeuArgAlaValValAlaGly;Gln59_Trp65delinsSerLeuMetValValAlaGly;Gln67_Gly72delinsSerLeuMetValVal] |
CA2577330161
NM_000311.5:c.126del
|