Allele Registry

Canonical Allele Identifier: PA100899

Gene: ELANE HGNC NCBI

ClinVar Allele:

31777

ClinVar RCV:

RCV000018222

RCV000522053

RCV001794454

ClinVar Variation:

16738

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Arg220Gln	CA281044 NM_001972.4:c.659G>A