Allele Registry

Canonical Allele Identifier: PA281500

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000190505

RCV002514083

ClinVar Variation:

208492

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Ala18Pro	CA281498 NM_001972.4:c.52G>C