HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000403003.2:p.[Phe84Ile;Gln86_Ile93delinsThrThrSerLeuArg;Ser95del;Pro97_Gly98del;Ala100_Ala106delinsProValProThr;Asn108_Ile113del] |
CA2578464705
ENST00000435422.7:c.249dup
|