HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000429378.1:p.[Phe85Ile;Gln87_Ile94delinsThrThrSerLeuArg;Ser96del;Pro98_Gly99del;Ala101_Ala107delinsProValProThr;Asn109_Ile114del] |
CA2578464705
ENST00000517913.5:c.252dup
|