HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000466341.2:p.[His40Arg;Gln43_Phe52delinsThrSerSerThrSerSer;Leu54_Lys56delinsThrThr;Gly58_Tyr63delinsPheAla;Asn65_Trp69del] |
CA2573155792
ENST00000591788.2:c.117_118dup
|