HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000472630.1:p.[Arg482Pro;Gln484_Ile488delinsGlyProAsp;Ala490_Leu497delinsProHisLeuGlyArgHisAla;Phe499_Tyr500del;Phe502_Glu510delinsProAlaGlyLeuLeuProVal] |
CA2585869024
ENST00000597055.1:c.1439_1442dup
|