HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000164.5:p.[Ser486_Leu487delinsIleThr;Glu489_Thr494delinsArg;Pro496_Asp499delinsHis;Pro501_Pro502del;Leu504_Gly510delinsAsn;Leu512_Ser514delinsPro] |
CA8315002
NM_000173.7:c.1454dup
|