HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_775112.1:p.[Leu49_Gln63delinsCysArgSerSerThrThrSerGlyThrArgLeuArgProGlyArg;Ile65del;Lys67_Asp70delinsSerAsnThrMet;Asp72_Gln73delinsGlnThr;Gly75_Asn78delinsProAlaProSerThr] |
CA2695218811
NM_173089.2:c.145del
|