HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000508319.1:p.[Pro1248_Ala1253delinsThrPheAsnArgSer;Val1255Met;Phe1257del;Glu1259Phe;Leu1261_Leu1268del;Val1270_Val1274delinsIle;Asn1276_Ile1277delinsTrpPro] |
CA344339
ENST00000683734.1:c.3741dup
|