HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000496356.1:p.[Gly347Ala;Val349Ala;Asn351_Ala355del;Ser357_Ile364delinsCysArgLysProTrpProGly;Ile366_Asp369del;Leu371_Asp372delinsIle;Leu374_Val375del] |
CA2516883493
ENST00000642424.1:c.1037_1038insTGCTCGTGCA
|