HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000489407.2:p.[Phe493_Lys497delinsSerLeuArg;Gln499Ser;Arg501_Lys502del;Pro504_Asp513delinsAla;Gln515_Glu516del;Ala519_Val522delinsProTrp] |
CA2657583376
ENST00000445220.7:c.1478del
|