This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ELANE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.[Gly222_Tyr228delinsArgLeuArgLeuArgAlaLeu;Asp230_Ala233delinsArgCysLeuCys;Val235_Phe238delinsGlyGlyThr;Asn240_Ile242delinsCysLysLeu;Ser244_Glu250delinsArgLeuTyrHisProThrLeuArgGly]
CA2587805403
NM_001972.4:c.662dup