HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000434023.1:p.[Phe82_Asn86delinsCysLeuProSerThr;Lys88Pro;Phe90_Lys101delinsLeuLeuArgThrSerThrSerThrGlySer;Val103_Asp105del;Asp107_Met111delinsAsnGly] |
CA2611691346
ENST00000493230.5:c.243_244dup
|