HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000360933.1:p.[Val195_Glu213delinsSerArgSerArgTrpTrpProCysThrMetProMetSerSerProSerAlaSerArg;Ile215_Met218delinsPheArgThrCys;Asn220_His224delinsMetSerValIle] |
CA2839976150
ENST00000371867.5:c.582del
|