Allele Registry

Canonical Allele Identifier: PA2580253465

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV002948126

ClinVar Variation:

2060963

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Ala100Ser	CA303943280 NM_001972.4:c.298G>T