Allele Registry

Canonical Allele Identifier: PA2580253463

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV002948535

RCV003797572

ClinVar Variation:

2063539

2940214

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Phe99Leu	CA9025995 NM_001972.4:c.297C>G CA402916051 NM_001972.4:c.295T>C CA402916064 NM_001972.4:c.297C>A