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Canonical Allele Identifier: Get Identifier
Gene: ELANE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526077.1:p.[His213_Arg220delinsGlnGluLeuProProSerSer;Gly222_Cys223delinsGluAla;Ser225delinsProGln;Leu227_Tyr228delinsSerThr;Asp230_Ala233delinsMetProLeu;Val235_Asp243delinsArgTrpHisSerLeu]
CA2740091835
XM_011527775.1:c.639del