Allele Registry

Canonical Allele Identifier: PA281054

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000018228

RCV003764587

ClinVar Variation:

16744

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Val72Met	CA281052 NM_001972.4:c.214G>A