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.Val72Leu
CA402914944
ENST00000590230.5:c.214G>T
CA402914946
ENST00000590230.5:c.214G>C