HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000496.2:p.[Pro333_Thr337delinsAlaSerValProAsp;Ala340Ser;Pro342delinsAlaGlyGlu;Lys344_Pro348delinsGlyAlaAlaAlaPhe;Ser350_Thr352delinsAspGlnGlu;Asn354_Pro356delinsProThrGlu;Ser358_Arg362delinsArgAlaAla] |
CA3581329
NM_000505.4:c.996dup
|