HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000416000.2:p.[Tyr348Ala;Ser350_Tyr356del;Asp358_Pro363delinsMetArgSerIleThrGly;Ser365Asn;Leu367_Gln374delinsThrThrProSerProGlyCys;Trp376_Asp378delinsThrIleCys] |
CA2831039051
ENST00000457836.6:c.1041_1044del
|