HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000536.5:p.[Gln252Pro;Leu254Ala;Ser256_Phe268delinsLeuGlnProArgHisGlyGlyAlaCysLeuGlnLeuValCysGlnPro;Asn270Gln;Lys273_Glu275delinsSerLeuPro;Phe277_Leu281delinsGlnAla] |
CA2695217548
NM_000545.6:c.754dup
|