HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000489407.2:p.[Ser491_Phe493del;Pro495Ser;Lys497_Arg500delinsLeuArgProSer;Lys502del;Pro504_Asp513delinsAla;Gln515_Glu516del;Ala519_Leu520delinsProTrp] |
CA2657583374
ENST00000445220.7:c.1470del
|