HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000394413.1:p.[Val666_Ile673delinsPheLeuLeuLysGluPheThrTyr;Gln675_Asn694delinsSerAlaSerAsnThrPheSerLeuLeuIleArgAsnLysAspValLysPheCysValMet] |
CA1725937038
ENST00000428214.5:c.1993del
|