HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000248.2:p.[Glu1604Asp;Arg1606_Leu1612delinsGlnProGln;Val1614_Met1618delinsGlyPro;Asp1621_Asn1623delinsGlu;Met1625del;Ile1627_Arg1634delinsAspGlyArgArgProGln] |
CA2624234337
NM_000257.4:c.4812_4813del
|