Allele Registry

Canonical Allele Identifier: PA100928

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000228921

ClinVar Variation:

242284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Cys151Phe	CA10583962 NM_001972.4:c.452G>T