HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000536.6:p.[Ser247del;Ser249_Gln252delinsIleThrGlyThr;Leu254Ala;Ser256_Glu274delinsLeuGlnProArgHisGlyGlyAlaCysLeuGlnLeuValCysGlnProAlaGlnArg] |
CA2695217542
NM_000545.8:c.732_733del
|