Allele Registry

Canonical Allele Identifier: PA658812408

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV001332066

RCV001796160

RCV002472330

ClinVar Variation:

535843

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Cys151Tyr	CA303944794 NM_001972.4:c.452G>A