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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.[Gly222_Tyr228delinsArgLeuArgLeuArgAlaLeu;Asp230_Ala233delinsArgCysLeuCys;Val235_Phe238delinsGlyGlyThr;Asn240_Ile242delinsCysLysLeu;Ser244_Glu250delinsArgLeuTyrHisProThrLeuArgGly]
CA2587805403
XM_011527775.1:c.662dup