HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000147.1:p.[His145Arg;Gln148_Phe157delinsThrSerSerThrSerSer;Leu159_Lys161delinsThrThr;Gly163_Tyr168delinsPheAla;Asn170_Trp174del] |
CA2573155792
NM_000156.6:c.432_433dup
|