Allele Registry

Canonical Allele Identifier: PA100881

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000478914

RCV003392305

ClinVar Variation:

418178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Arg103Leu	CA16620913 NM_001972.4:c.308G>T