HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000315774.5:p.[Asn184_Asn191delinsLysArgArgSerCysSerThrThr;Asp193_Arg210delinsThrSerGlyArgProArgSerProProThrSerArgLeuThrThrCysIleGlyAspAlaPro] |
CA6146564
ENST00000313468.10:c.552del
|