HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000193.1:p.[Leu102_Asn106delinsArgThrThr;Tyr108_Ser117delinsThrProThrGlyGlyCysThrLeuGlu;Ile119Ser;Gln121_Thr130delinsProSerProSerThrSerArgArgMetAla] |
CA2465010878
NM_000202.8:c.305del
|