Allele Registry

Canonical Allele Identifier: PA645460969

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000227502

RCV001795380

RCV003409362

ClinVar Variation:

242292

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Arg193Gln	CA9026097 NM_001972.4:c.578G>A