HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000053.2:p.[Val359_Leu367delinsAspThrPro;Asp369_Met370delinsPro;Gln372_Leu374delinsThr;Pro376del;Val378_Met388del] |
CA2695214200
NM_000062.3:c.1075_1076insA
|