HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000009.1:p.[Ser532_Ile552delinsGluTrpArgAlaGlySerThrGlySerGlyAlaValCysHisCysGlyGlyGlyGlnAlaAsp;His554_Lys556delinsThrGlnGlu;Ile558_Glu561delinsAspCysGln] |
CA16616934
NM_000018.4:c.1593dup
|