HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000009.1:p.[Ala513del;Leu515Gln;Ser517_Leu535delinsTrpAla;Val537_Arg538del;Leu540_Gln542del] |
CA2635784039
NM_000018.4:c.1536_1537dup
|