Allele Registry

Canonical Allele Identifier: PA100867

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000018224

RCV001794455

RCV002262567

RCV003343600

ClinVar Variation:

16740

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Ala61Val	CA281048 NM_001972.4:c.182C>T