HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Gln163_Asp170delinsSerCysGlyProAlaThrThrThr;Asp172_Gln191delinsThrAlaLysMetAlaArgMetSerGlyArgSerAlaValGlyValPheThrCysSerLys] |
CA645617878
NM_000527.5:c.487del
|