Canonical Allele Identifier: PA2741886959
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2952578
ClinVar RCV Id: RCV003817712

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Cys254Tyr
CA402919442
NM_001972.4:c.761G>A