HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000386100.1:p.[Ala341_Gly347delinsProThrArgMetProAla;His349_Asn351delinsSerThrAla;Leu354_Ile370delinsArgCysThrTrpProCysArgLysThrThrTrpArg] |
CA2656646047
ENST00000402064.5:c.1021del
|