Allele Registry

Canonical Allele Identifier: PA101384

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000018229

RCV000508432

RCV000990116

RCV001794457

ClinVar Variation:

16745

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Ser126Leu	CA281055 NM_001972.4:c.377C>T