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.Phe232Leu
CA402919181
ENST00000590230.5:c.694T>C
CA402919191
ENST00000590230.5:c.696T>A
CA402919192
ENST00000590230.5:c.696T>G