Allele Registry

Canonical Allele Identifier: PA101276

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000225846

RCV001795378

ClinVar Variation:

242289

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Leu47Pro	CA10583960 NM_001972.4:c.140T>C