HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000319473.8:p.[Asn750_Pro758delinsThrValLeuLeuProSerAlaProGln;Lys760_Arg761delinsSerGly;Ile763_Asn779delinsSerSerGlyGlnHisThrGlyGluProArgAlaArgArgArgArgArgThr] |
CA2579619385
ENST00000322659.12:c.2249del
|