Allele Registry

Canonical Allele Identifier: PA3057634804

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV005334647

ClinVar Variation:

3844329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Ala100Val	CA402916079 NM_001972.4:c.299C>T