HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000432848.1:p.[Asn38_Asn45delinsLysArgArgSerCysSerThrThr;Asp47_Arg64delinsThrSerGlyArgProArgSerProProThrSerArgLeuThrThrCysIleGlyAspAlaPro] |
CA6146564
ENST00000528492.1:c.114del
|