Allele Registry

Canonical Allele Identifier: PA2580253446

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV002620309

ClinVar Variation:

2188546

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Val72Leu	CA402914944 NM_001972.4:c.214G>T CA402914946 NM_001972.4:c.214G>C