HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000377309.2:p.[His482_Ser488delinsThrProHisLeuGlnCysGln;Val490_Ser502delinsProArgLeuGlnLeuHisPheThrCysLeuAlaMetAsp;Gly504Pro;Asp506_Gln510delinsProArgProHisLeu;Pro511_Pro512insAla] |
CA1879976938
ENST00000393706.6:c.1440_1443dup
|