Allele Registry

Canonical Allele Identifier: PA101307

Gene: ELANE HGNC NCBI

ClinVar Allele:

410724

ClinVar RCV:

RCV000482349

RCV001796069

RCV003401512

ClinVar Variation:

418179

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Leu84Pro	CA16620912 NM_001972.4:c.251T>C