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
ENSP00000466090.1:p.Cys223Ser
CA402919083
ENST00000590230.5:c.667T>A
CA402919090
ENST00000590230.5:c.668G>C